Steadily improving management of Duchenne muscular dystrophy (DMD) continues to lead to improved physical and functional status, allowing increasingly successful transitions to independence and self-actualization in adulthood. Rehabilitation principles remain key to overall management for individuals with DMD with increasing options for ever more successful management, reflecting a changing natural history based on the use of glucocorticoids, more consistent comprehensive care, and the emergence of disease-modifying treatments. Advances and expansion in assessment, cardiorespiratory management, preventive management of contracture and deformity, assistive technology, “smart” technology, and robotics with increased emphasis on function, participation, self-advocacy, and independence in decision-making should allow individuals with DMD to experience childhood and transition to adulthood with support that allows for increasing success in the achievement of individual goals and fulfillment across the life span.

Duchenne Muscular Dystrophy (DMD) Care Considerations, initially published in 2010,1,2 were recently updated.3,5 These considerations, supported by the Centers for Disease Control and Prevention, offer overall recommendations for management by the multidisciplinary team.3,5 In this specialty article, we offer in-depth descriptions of the current comprehensive, anticipatory, preventive rehabilitation management of DMD including an updated understanding of the pathokinesiology of disease progression, changing natural history, recommendations for assessment and intervention, and future directions. Respiratory rehabilitation management is covered in the article on respiratory management that is part of this supplement.6 

DMD is characterized by well-known patterns of progressive muscle degeneration and weakness, postural compensations, risk of progressive contracture and deformity, and functional losses resulting from dystrophin deficiency (Tables 1 and 2).1,2,7,19 The natural history of DMD has changed over the years with more comprehensive medical and therapeutic management,1,3,6,9,15,16,20,37 the use of glucocorticoids,38,40 and the advent of emerging disease-modifying treatments.38,43 These advances have resulted in prolonged ambulation,28,43,54 decreases and/or delays in the development of severe contracture and deformity (including scoliosis),2,7,9,15,16,20,22,24,31,55,56 improved cardiorespiratory status,1,4,6,36,57 and prolonged function into adulthood. Patients have been supported by advancing adaptive equipment, assistive technology, and “smart” technology, all of which promise ever-increasing participation in adulthood.1,3,31Figure 1 includes an overall summary of rehabilitative care during the various clinical stages of DMD.

TABLE 1

Pathokinesiology of Disease Progression

WeaknessCompensationsRisk of Tightness (2-joint muscles get tight first)
Early stage   
 • Hip extensors (gluteus maximus) • Posterior trunk lean and increased lumbar lordosis used to keep line of gravity behind hip joint (initially see less anterior pelvic tilt when hyperextension at hip joint in stance as long as quadriceps are strong enough to counteract movement into knee flexion) • May see emerging tightness in the following: 
 • Ankle dorsiflexors (anterior tibialis) • Lack of heel strike  • Plantar flexors 
 • Increased hip flexion during swing to clear foot  
 • Foot may be pronated and averted  
 • Hip abductors (gluteus medius)  • May see "hip-waddling gait" due to inadequate forward weight shift  • Hip flexors 
 • Hip adductors • Increased UE abduction and lateral trunk sway  • Iliotibial bands 
 • Abdominals • Cadence decreases   
 • Gowers maneuver  
   
 • Neck flexors (sternocleidomastoid) • Neck and UE weakness not usually noticeable functionally but apparent with testing; may see slight head lag when pulled up to sit; may "slide through your hands" when lifted up under shoulders  
 • Shoulder depressors and extensors (lower trap and/or latissimus)   
 • Shoulder abductors (deltoids)   
 • Elbow extensors (triceps)   
   
Transitional stage   
 • Weakness progresses in muscles listed above • Must get line of gravity simultaneously in front of knee joint and behind and lateral to hip joint; see:  • Iliotibial band and tensor fascia lata 
 • Quadriceps weakness is key to gait deterioration  • Anterior pelvic tilt • Hip flexors 
  • Increased posterior and lateral trunk lean during stance • Hamstrings 
  • Increased lumbar lordosis • Gastrocsoleus 
   • Diminished hip extension in stance  • Posterior tibialis 
 • Base of support widens • Plantar fascia 
  • For balance  
  • Secondary to tight iliotibial bands  
 • Ankle evertors (peroneals) • Increased ankle plantarflexion and equinus positioning to give torque that opposes knee flexion; begin to see increased falling; get inversion with posterior tibialis relatively stronger; leads to unstable subtalar joint and more falling due to “twisting of the ankle,” although most falling is due to weakness in quadriceps and “knee buckling”  
   
Later stages   
 • Weakness continues to progress in muscles listed above and becomes profound • Before loss of ambulation, most compensations are used to maintain an upright posture and facilitate ambulation • Accelerated development of LE contractures 
 • UE weakness becomes more significant functionally and is imbalanced • After loss of ambulation, compensatory movements are primarily used to do the following: • Beginning development of UE contractures 
  • Elbow extension weaker than flexion  • Achieve support and stability in sitting • Tightness into elbow flexion and pronation 
  • Forearm supination weaker than pronation  • Assist UE function • Tightness in wrist and finger flexors and/or extensors, lumbricals, other intrinsic hand musculature 
  • Wrist and finger extension weaker than flexion • Compensatory movements include • Increased potential for deformity, such as swan neck deformity 
  • Leaning for stability  
 • Distal hand function is relatively preserved at least in long flexors but may be functionally compromised by lack of proximal stability and/or scoliosis requiring use of hands for sitting stability  • Contralateral trunk leaning during UE function to substitute for shoulder girdle (deltoid) weakness in arm lifting  
  • Backward leaning and/or lurching to compensate for deltoid weakness in forward flexion and biceps weakness in elbow flexion • Scoliosis: the development of scoliosis is a complication of the late or nonambulatory stage, with natural history changing (decreasing scoliosis) with steroids but still requiring conservative preventative management with optimal wheelchair seating system support 
 • Neck extensors, hamstrings, posterior tibialis are relatively spared until later in the disease  • Leading with head (especially using neck extensors) to shift weight and compensate for weak trunk musculature; using mouth to grab fingers and move arm to substitute for proximal UE musculature; pivoting forearm on elbow to substitute for elbow flexors • Hypoextensibility in cervical (neck) spinal extensors and rotator 
  • Decreased cervical rotation and lateral flexion 
WeaknessCompensationsRisk of Tightness (2-joint muscles get tight first)
Early stage   
 • Hip extensors (gluteus maximus) • Posterior trunk lean and increased lumbar lordosis used to keep line of gravity behind hip joint (initially see less anterior pelvic tilt when hyperextension at hip joint in stance as long as quadriceps are strong enough to counteract movement into knee flexion) • May see emerging tightness in the following: 
 • Ankle dorsiflexors (anterior tibialis) • Lack of heel strike  • Plantar flexors 
 • Increased hip flexion during swing to clear foot  
 • Foot may be pronated and averted  
 • Hip abductors (gluteus medius)  • May see "hip-waddling gait" due to inadequate forward weight shift  • Hip flexors 
 • Hip adductors • Increased UE abduction and lateral trunk sway  • Iliotibial bands 
 • Abdominals • Cadence decreases   
 • Gowers maneuver  
   
 • Neck flexors (sternocleidomastoid) • Neck and UE weakness not usually noticeable functionally but apparent with testing; may see slight head lag when pulled up to sit; may "slide through your hands" when lifted up under shoulders  
 • Shoulder depressors and extensors (lower trap and/or latissimus)   
 • Shoulder abductors (deltoids)   
 • Elbow extensors (triceps)   
   
Transitional stage   
 • Weakness progresses in muscles listed above • Must get line of gravity simultaneously in front of knee joint and behind and lateral to hip joint; see:  • Iliotibial band and tensor fascia lata 
 • Quadriceps weakness is key to gait deterioration  • Anterior pelvic tilt • Hip flexors 
  • Increased posterior and lateral trunk lean during stance • Hamstrings 
  • Increased lumbar lordosis • Gastrocsoleus 
   • Diminished hip extension in stance  • Posterior tibialis 
 • Base of support widens • Plantar fascia 
  • For balance  
  • Secondary to tight iliotibial bands  
 • Ankle evertors (peroneals) • Increased ankle plantarflexion and equinus positioning to give torque that opposes knee flexion; begin to see increased falling; get inversion with posterior tibialis relatively stronger; leads to unstable subtalar joint and more falling due to “twisting of the ankle,” although most falling is due to weakness in quadriceps and “knee buckling”  
   
Later stages   
 • Weakness continues to progress in muscles listed above and becomes profound • Before loss of ambulation, most compensations are used to maintain an upright posture and facilitate ambulation • Accelerated development of LE contractures 
 • UE weakness becomes more significant functionally and is imbalanced • After loss of ambulation, compensatory movements are primarily used to do the following: • Beginning development of UE contractures 
  • Elbow extension weaker than flexion  • Achieve support and stability in sitting • Tightness into elbow flexion and pronation 
  • Forearm supination weaker than pronation  • Assist UE function • Tightness in wrist and finger flexors and/or extensors, lumbricals, other intrinsic hand musculature 
  • Wrist and finger extension weaker than flexion • Compensatory movements include • Increased potential for deformity, such as swan neck deformity 
  • Leaning for stability  
 • Distal hand function is relatively preserved at least in long flexors but may be functionally compromised by lack of proximal stability and/or scoliosis requiring use of hands for sitting stability  • Contralateral trunk leaning during UE function to substitute for shoulder girdle (deltoid) weakness in arm lifting  
  • Backward leaning and/or lurching to compensate for deltoid weakness in forward flexion and biceps weakness in elbow flexion • Scoliosis: the development of scoliosis is a complication of the late or nonambulatory stage, with natural history changing (decreasing scoliosis) with steroids but still requiring conservative preventative management with optimal wheelchair seating system support 
 • Neck extensors, hamstrings, posterior tibialis are relatively spared until later in the disease  • Leading with head (especially using neck extensors) to shift weight and compensate for weak trunk musculature; using mouth to grab fingers and move arm to substitute for proximal UE musculature; pivoting forearm on elbow to substitute for elbow flexors • Hypoextensibility in cervical (neck) spinal extensors and rotator 
  • Decreased cervical rotation and lateral flexion 

With weakness and compensation, there is often no way to eliminate a compensatory position or pattern of movement without eliminating the function (ambulation and UE function), but intervention is used to prevent contractures that result from compensations, allowing compensations to be used to optimize function without leading to contracture that contributes to the self-perpetuating evolution of weakness, contracture, and/or functional loss that characterize DMD. Understanding the pathokinesiology below is required for optimal management.11,14,20,24,30 

TABLE 2

Muscles and Structures Requiring Preventive Stretching

LEsUEs
Stretching into isolated hip extension Elbow flexors 
Stretching into isolated knee extension Forearm pronators 
Hip flexors Long wrist and finger flexors 
Iliotibial bands Finger extensors 
Hamstrings Lumbricals 
Plantar flexors (with knee flexed and extended) Thumb adductors 
Posterior tibialis Palm musculature 
Plantar fascia Shoulder musculature 
Toe flexors  
Other  
 Neck extensors  
 Rib cage mobility and expansion  
 Any other structures identified by assessment  
LEsUEs
Stretching into isolated hip extension Elbow flexors 
Stretching into isolated knee extension Forearm pronators 
Hip flexors Long wrist and finger flexors 
Iliotibial bands Finger extensors 
Hamstrings Lumbricals 
Plantar flexors (with knee flexed and extended) Thumb adductors 
Posterior tibialis Palm musculature 
Plantar fascia Shoulder musculature 
Toe flexors  
Other  
 Neck extensors  
 Rib cage mobility and expansion  
 Any other structures identified by assessment  
FIGURE 1

Rehabilitation assessments and interventions across all disease stages for patients with DMD. a Areas typically at risk of contracture and deformity include hip flexors, iliotibial bands, hamstrings, plantar flexors, plantar fascia, elbow flexors, forearm pronators, long wrist and finger flexors and extensors, lumbricals, and cervical extensors; isolated joint contracture into hip and knee flexion and plantar flexion, varus at hindfoot and forefoot, elbow flexion, wrist flexion or extension, and finger joints; and deformity of the vertebral column and chest wall, including scoliosis, excessive kyphosis, lordosis, and decreased chest wall mobility. (Reproduced with permission from Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018.17[3]:257.)

FIGURE 1

Rehabilitation assessments and interventions across all disease stages for patients with DMD. a Areas typically at risk of contracture and deformity include hip flexors, iliotibial bands, hamstrings, plantar flexors, plantar fascia, elbow flexors, forearm pronators, long wrist and finger flexors and extensors, lumbricals, and cervical extensors; isolated joint contracture into hip and knee flexion and plantar flexion, varus at hindfoot and forefoot, elbow flexion, wrist flexion or extension, and finger joints; and deformity of the vertebral column and chest wall, including scoliosis, excessive kyphosis, lordosis, and decreased chest wall mobility. (Reproduced with permission from Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018.17[3]:257.)

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Multidisciplinary assessment across the International Classification of Functioning, Disability, and Health and care continuum remains important in guiding rehabilitation interventions. Assessment tools recommended in the original (2010) Care Considerations remain supported and expanded via newly developed tools (Tables 3 and 4). Impairment-level measures include passive ranges of motion (ROM) and the assessment of alignment and posture, which is critical in monitoring the success of musculoskeletal management and identifying needs for additional physical therapy (PT), occupational therapy (OT), orthotic intervention, serial casting, seating system modification, supported standing, and adaptive equipment. Standardized functional assessments for DMD have been expanded with the establishment of validity, reliability, predictive potential, and minimal clinically important differences, which are described in detail in the 2018 DMD Care Considerations.3,5 These assessments should be used across the life span (Table 3).32,41,58,66 Use of the same measures over time, including new assessments as appropriate, is recommended to monitor change and support anticipatory management. Measurement of pain,67,73 fatigue,74 disability,75 participation, quality of life,69,75,77 and patient-reported outcomes32,78,84 are important as is the increasing use of activity monitoring.59,60,63 Occupational therapist assessment of learning, attentional, and sensory processing differences, fine motor function, and activities of daily living (ADL) should begin early, guiding intervention and optimizing success. Multidisciplinary assessment across the International Classification of Functioning, Disability, and Health should occur at least every 6 months, with more frequent assessment being triggered by concern, change in status, or specific needs as supported by professional standards of care.85,86 

TABLE 3

Rehabilitation Assessments

Standardized Functional AssessmentsPatient-Reported Outcomes and Patient-Reported Outcome Measures
Disability Measures and Participation ScalesQuality of LifeOther
North Star Ambulatory Assessment62,64,65   Pediatric Quality of Life Inventory75  Pain scales73  
Timed functional tests58     
 10-m walk and/or run Pediatric Outcomes Data Collection Instrument32   Neuromuscular module Fatigue scales69  
 Supine to stand Canadian occupational performance measure78   Multidimensional fatigue scale Rate of perceived exertion87  
 4-stair climb Child health questionnaire79  NeuroQOL75  Borg Dyspnea Scale88  
 Sit to stand Pediatric Evaluation of Disability Index80  Health-related quality of life76  Activity monitoring60,89,90  
 Supine to sit Functional Independence Measure81  Questionnaire for neuromuscular diseases77  DMD Upper Limb Patient-Reported Outcome Measure91  
6-min walk test58  Pediatric Functional Independence Measure82  Life satisfaction index for adolescents92,93   
Gait, stairs, Gower, chair66  School Function Assessment83  Children’s Assessment of Participation and Enjoyment and Preferences for Activities of Children94   
Motor function measure95   Activities-Specific Scale for Kids96   
Brooke Upper Extremity Scale97     
Vignos Lower Extremity Scale97     
Egen Klassifikation Scale98     
9-hold peg test99     
Jebsen-Taylor Hand Function Test100     
Reachable work space101     
Performance of upper limb102,103     
Bayley Scales of Infant Development, Third Edition (motor)104     
   
Griffith Motor Scales104     
Hammersmith Functional Motor Scale Extend (exploratory)104     
Alberta Infant Motor Scale (exploratory)105     
Gross Motor Function Measure (exploratory)106,107     
Standardized Functional AssessmentsPatient-Reported Outcomes and Patient-Reported Outcome Measures
Disability Measures and Participation ScalesQuality of LifeOther
North Star Ambulatory Assessment62,64,65   Pediatric Quality of Life Inventory75  Pain scales73  
Timed functional tests58     
 10-m walk and/or run Pediatric Outcomes Data Collection Instrument32   Neuromuscular module Fatigue scales69  
 Supine to stand Canadian occupational performance measure78   Multidimensional fatigue scale Rate of perceived exertion87  
 4-stair climb Child health questionnaire79  NeuroQOL75  Borg Dyspnea Scale88  
 Sit to stand Pediatric Evaluation of Disability Index80  Health-related quality of life76  Activity monitoring60,89,90  
 Supine to sit Functional Independence Measure81  Questionnaire for neuromuscular diseases77  DMD Upper Limb Patient-Reported Outcome Measure91  
6-min walk test58  Pediatric Functional Independence Measure82  Life satisfaction index for adolescents92,93   
Gait, stairs, Gower, chair66  School Function Assessment83  Children’s Assessment of Participation and Enjoyment and Preferences for Activities of Children94   
Motor function measure95   Activities-Specific Scale for Kids96   
Brooke Upper Extremity Scale97     
Vignos Lower Extremity Scale97     
Egen Klassifikation Scale98     
9-hold peg test99     
Jebsen-Taylor Hand Function Test100     
Reachable work space101     
Performance of upper limb102,103     
Bayley Scales of Infant Development, Third Edition (motor)104     
   
Griffith Motor Scales104     
Hammersmith Functional Motor Scale Extend (exploratory)104     
Alberta Infant Motor Scale (exploratory)105     
Gross Motor Function Measure (exploratory)106,107     

Impairment-level measures and/or assessments: passive ROM, muscle extensibility, strength, posture, and alignment. ADL Assessment includes ADL, instrumental ADL, access, adaptive equipment, and assistive technology. Falls Risk Assessment includes an assessment of learning, attention, and sensory processing. (Reproduced with permission from Birnkrant DJ, Bushby K, Bann CM et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, an update, part 1: Diagnosis, neuromuscular, rehabilitation, endocrine, and nutritional management [published correction appears in Lancet Neurol 2018;17(6):495]. Lancet Neurology 2018;17(3):251–267; supplemental appendix:2.)

TABLE 4

Orthotic Intervention, Splints, and/or Adaptive Equipment for Stretching

• AFOs for stretching 
 • Modified leaf-spring AFOs (lighter weight, less cumbersome, allow for some movement) for use at night or during daytime periods when not walking 
 • Articulating AFOs may offer more movement for increased tolerance at night, but can be bulkier 
 • Adjustable-angle AFOs to try to gain increased range (a little bulkier) for use at night or during daytime periods when not walking 
 • Modular (3-piece) AFOs for use in combinations of night use and/or daytime use in nonambulatory stages 
  • Ankle height (supramalleolar during the day to maintain medial-lateral alignment if 90° maintained by footrest) 
  • Taller AFO component to prevent plantar flexor tightness; may be rigid, flexible, or articulating (hinged) depending on need, tolerance, and preference 
• Inner liner for comfort (can be important in any AFO) 
• Serial casting 
• Knee extension splints 
• KAFOs (or “long leg braces”) 
• Stander and/or stand-and-drive motorized wheelchair 
• Hand and/or wrist splints to maintain length in long wrist and finger flexors 
• Stretching gloves to maintain length in finger extensors 
• Oval-8 finger splints to prevent hyperextension at proximal interphalangeal joint 
• AFOs for stretching 
 • Modified leaf-spring AFOs (lighter weight, less cumbersome, allow for some movement) for use at night or during daytime periods when not walking 
 • Articulating AFOs may offer more movement for increased tolerance at night, but can be bulkier 
 • Adjustable-angle AFOs to try to gain increased range (a little bulkier) for use at night or during daytime periods when not walking 
 • Modular (3-piece) AFOs for use in combinations of night use and/or daytime use in nonambulatory stages 
  • Ankle height (supramalleolar during the day to maintain medial-lateral alignment if 90° maintained by footrest) 
  • Taller AFO component to prevent plantar flexor tightness; may be rigid, flexible, or articulating (hinged) depending on need, tolerance, and preference 
• Inner liner for comfort (can be important in any AFO) 
• Serial casting 
• Knee extension splints 
• KAFOs (or “long leg braces”) 
• Stander and/or stand-and-drive motorized wheelchair 
• Hand and/or wrist splints to maintain length in long wrist and finger flexors 
• Stretching gloves to maintain length in finger extensors 
• Oval-8 finger splints to prevent hyperextension at proximal interphalangeal joint 

Comprehensive, anticipatory, preventive rehabilitation management is focused on protecting fragile muscles; preserving and maintaining optimal strength; minimizing the progression of weakness when possible; preventing and minimizing progressive contracture and deformity; supporting optimal cardiorespiratory care and function; optimizing energy efficiency and energy conservation; providing adaptive equipment and assistive technology; maintaining skin integrity; preventing and minimizing pain; supporting function, functional independence, and participation at school, work, and in family and social life; and optimizing quality of life.1,3,6,9,20,31,108 

A multidisciplinary rehabilitation team is required that includes physicians, physical therapists, occupational therapists, speech-language pathologists, orthotists, and providers of durable medical equipment who coordinate with those in pulmonary medicine, orthopedics, cardiology, neurology, genetics, social work, psychology, endocrinology, nutrition, and gastroenterology. Direct skilled PT, OT, and speech-language therapy, based on individual assessment, are provided in outpatient, home, and school settings and in inpatient settings during hospitalizations and should be continued throughout adulthood.

Anticipatory preventive musculoskeletal management is focused on preserving muscle extensibility, joint mobility, and symmetry to prevent and minimize contracture and deformity and should be a component of care at all stages.1,3,7,9,20,22,24,31 Joint contractures and diminished muscle extensibility in DMD result from interacting factors, including a lack of full active joint ROM, static positioning, and imbalanced muscle weakness across joints.2 Fibrotic changes in the muscle begin with early fibrosis in the newborn period, revealing the importance of early preventive management of muscle flexibility and extensibility.9,13,16,20,22,24,31,85,86,108,109 Effective maintenance of joint ROM, muscle extensibility, and prevention of contracture and deformity requires multiple coordinated interventions, including active and/or active-assisted elongation; daily passive stretching of joints, muscles, and soft tissues at risk for tightness and those identified via assessment; prolonged elongation; and support of optimal positioning throughout the day with splinting, orthotic intervention, standing devices, custom seating in mobility devices, and adaptive equipment.1,3,7,13,15,16,20,22,24,31,33,110,112 

Stretching to prevent and minimize contractures should be done a minimum of 4 to 6 days per week for joints and muscle groups known to be at risk for hypoextensibility and those identified via assessment (Tables 1 and 2).2 When stretching, providers should include manual therapy techniques, avoid the elicitation of pain, and establish a preventative stretching program before decreases in passive ROM occur, with direct PT and OT accompanied by support of optimal positioning and the use of splinting and orthotic intervention, custom seating systems, supported standing, and adaptive equipment. Preventive stretching of lower extremities (LEs) should be initiated early in the ambulatory phase and continued through adulthood. Preventive stretching of upper extremities (UEs) and the neck becomes increasingly important in nonambulatory stages and throughout adulthood. Increased risk areas for contracture and deformity in adults with DMD (Tables 1 and 2) necessitate detailed assessment and intervention over time. The maintenance of chest wall mobility is important in respiratory management and the prevention of scoliosis. Local care should be augmented by guidance from specialists every 4 to 6 months.1,3,7,8,11,13,15,16,20,22,24,31,33,110 

The prevention of contractures and deformity requires preventive splinting and orthotic intervention, positioning, supported standing programs, and the use of adaptive equipment and assistive technology in addition to manual stretching programs (see Supplemental Figs 2–11) (Tables 4 and 5).1,3,7,8,13,15,16,20,22,24,31,108 

TABLE 5

Seating System, Power-Positioning Components, and Functional Components for Motorized Wheelchairs

ComponentsPurpose and Rationale
Seating Sysytem Components  
 • Solid seat with hip guides • To prevent pelvic asymmetry and obliquity; support a midline-level pelvic position to provide a level base of support in sitting for support of spinal symmetry; maintain symmetry of weight-bearing through ischial tuberosities for maintenance of skin integrity; and prevent pain 
 • Pressure-relief cushion with adequate stability • For pressure relief, maintenance of skin integrity, prevention of pain, and to maximize sitting endurance over time while maintaining a level pelvis 
 • Solid planar back with rigid lateral trunk supports • To maintain support at midline and maintain a midline, symmetrical, extended spinal alignment to prevent or minimize the development of scoliosis 
 • Adductors • To support knees at midline and prevent positioning in excessive hip abduction and external rotation that leads to iliotibial band tightness; swing away, removable, and/or flip down to allow easier urinal use 
 • Elbow supports • To maintain hand on joystick when driving, especially during power tilt and recline 
 • Headrest • For safety and support of head control 
 • Facial components on headrest (swing away) • To maintain midline head position and safety in the presence of decreased neck strength, decrease neck fatigue, and prevent neck pain 
 • Gel overlays • Can be added to hip guides, trunk supports, adductors, arm rests, elbow supports, and headrest for pressure relief, maintenance of skin integrity, and tolerance of support 
 • Mounts for smartphones and tablets • Access to support smartphone and tablets 
 • Padded seatbelt • For safety and support of pelvic alignment 
Power-positioning components  
 • Power tilt • To provide weight shift for the redistribution of pressure for pressure relief to maintain skin integrity (especially important if unable to shift weight independently); to allow resting intermittently to maximize functional endurance throughout the day 
 • Power recline • To provide weight shift for the redistribution of pressure for pressure relief to maintain skin integrity, provide elongation of hip flexors for prevention and/or minimization of progressive hip flexor contractures, and allow resting intermittently to maximize functional endurance throughout the day 
 • Power sliding (antishear) back • To maintain optimal positioning of seating system components, especially trunk supports, during position change with power-positioning components 
 • Power-adjustable seat height • For functional access to the environment and to increase safety in transfers between surfaces 
 • Separately elevating power-elevating leg rests • For elongation of hamstrings and assistance in preventing and/or minimizing progression of knee flexion contractures 
 • Power stand and drive • To provide independent, supported standing intermittently throughout the day in optimal LE alignment with greater duration of standing than a separate stander can provide; minimize LE contracture and deformity; promote bone density, strength, and integrity and minimize the development of osteoporosis; provide support of function and/or ADL that are not possible in sitting; minimize risk of falls during supported standing by obviating the need for transfers to provide supported standing; and provide vibration during weight-bearing while driving in supported standing for increased bone density 
Functional components  
 • Tray • For UE support and function 
 • Swing-away and/or retractable joystick • Access 
 • USB charger • For phone access for safety 
 • Lights and blinkers • For safety in community mobility for participation 
 • Group 4 base with high-speed package • Needed for safety on all terrain and crossing streets safely in community mobility 
 • Bluetooth and infrared capabilities • For access and safety in environmental control and communication 
 • Separate flip-up or swing-away footrests • Can be needed for safety in transfers 
 • Aggressive tread-on tires • For safety and function on all terrains 
ComponentsPurpose and Rationale
Seating Sysytem Components  
 • Solid seat with hip guides • To prevent pelvic asymmetry and obliquity; support a midline-level pelvic position to provide a level base of support in sitting for support of spinal symmetry; maintain symmetry of weight-bearing through ischial tuberosities for maintenance of skin integrity; and prevent pain 
 • Pressure-relief cushion with adequate stability • For pressure relief, maintenance of skin integrity, prevention of pain, and to maximize sitting endurance over time while maintaining a level pelvis 
 • Solid planar back with rigid lateral trunk supports • To maintain support at midline and maintain a midline, symmetrical, extended spinal alignment to prevent or minimize the development of scoliosis 
 • Adductors • To support knees at midline and prevent positioning in excessive hip abduction and external rotation that leads to iliotibial band tightness; swing away, removable, and/or flip down to allow easier urinal use 
 • Elbow supports • To maintain hand on joystick when driving, especially during power tilt and recline 
 • Headrest • For safety and support of head control 
 • Facial components on headrest (swing away) • To maintain midline head position and safety in the presence of decreased neck strength, decrease neck fatigue, and prevent neck pain 
 • Gel overlays • Can be added to hip guides, trunk supports, adductors, arm rests, elbow supports, and headrest for pressure relief, maintenance of skin integrity, and tolerance of support 
 • Mounts for smartphones and tablets • Access to support smartphone and tablets 
 • Padded seatbelt • For safety and support of pelvic alignment 
Power-positioning components  
 • Power tilt • To provide weight shift for the redistribution of pressure for pressure relief to maintain skin integrity (especially important if unable to shift weight independently); to allow resting intermittently to maximize functional endurance throughout the day 
 • Power recline • To provide weight shift for the redistribution of pressure for pressure relief to maintain skin integrity, provide elongation of hip flexors for prevention and/or minimization of progressive hip flexor contractures, and allow resting intermittently to maximize functional endurance throughout the day 
 • Power sliding (antishear) back • To maintain optimal positioning of seating system components, especially trunk supports, during position change with power-positioning components 
 • Power-adjustable seat height • For functional access to the environment and to increase safety in transfers between surfaces 
 • Separately elevating power-elevating leg rests • For elongation of hamstrings and assistance in preventing and/or minimizing progression of knee flexion contractures 
 • Power stand and drive • To provide independent, supported standing intermittently throughout the day in optimal LE alignment with greater duration of standing than a separate stander can provide; minimize LE contracture and deformity; promote bone density, strength, and integrity and minimize the development of osteoporosis; provide support of function and/or ADL that are not possible in sitting; minimize risk of falls during supported standing by obviating the need for transfers to provide supported standing; and provide vibration during weight-bearing while driving in supported standing for increased bone density 
Functional components  
 • Tray • For UE support and function 
 • Swing-away and/or retractable joystick • Access 
 • USB charger • For phone access for safety 
 • Lights and blinkers • For safety in community mobility for participation 
 • Group 4 base with high-speed package • Needed for safety on all terrain and crossing streets safely in community mobility 
 • Bluetooth and infrared capabilities • For access and safety in environmental control and communication 
 • Separate flip-up or swing-away footrests • Can be needed for safety in transfers 
 • Aggressive tread-on tires • For safety and function on all terrains 

See also Supplemental Figs 2–11. USB, Universal Serial Bus.

Orthoses

Resting or stretching ankle-foot orthoses (AFOs) are necessary, with nighttime use having been shown to prevent and minimize progressive plantarflexion contractures, and are appropriate throughout life.2,3,7,11,13,18,24,28,31,109,113 AFOs should be custom molded, fabricated for comfort and optimum foot-ankle alignment. They are typically best tolerated if started preventively at young ages. Blanket lifter bars may ease bed mobility, increasing tolerance of nighttime AFO use. If nighttime tolerance cannot be achieved, the use of stretching AFOs during nonambulatory portions of the day is encouraged. Daytime AFO use can be appropriate for full-time wheelchair users, extending into adulthood. Lower-profile orthoses may be considered for full-time wheelchair users to control plantar varus if adequate medial-lateral positioning is maintained and adequate dorsiflexion is supported by wheelchair footrests. Knee-ankle-foot orthoses (KAFOs) (eg, long leg braces or calipers) for supported standing, limited ambulation for therapeutic purposes, and the prevention of contracture and deformity in late-ambulatory and early nonambulatory stages11,13,20,21,27,28,44,54 are evolving and may not be tolerated at night.13 Adjustable knee extension splints can be considered for assistance in maintaining knee extension range in nonambulatory individuals. Comfortable support of neutral LE positioning in bed helps minimize contracture. The use of resting hand splints, stretching gloves, and oval-8 finger splints is appropriate, continuing into adulthood for stabilization, support, and musculoskeletal management. (Supplemental Fig 2).

Standing Devices

Supported standing devices for individuals with no or mild LE contractures are necessary for late-ambulatory and early nonambulatory stages, including standers and stand-and-drive motorized wheelchairs, extending benefits previously reported with the use of KAFOs.2,3,7,8,13,16,28,44,53,112 Supported standing for prolonged passive elongation of LE musculature should be considered when standing and walking in good alignment become difficult. The importance of initiating the preventive use of supported standing before the development of contractures should be emphasized.112 Many advocate for the continued use of supported standing devices and a powered stand-and-drive motorized wheelchair into late-nonambulatory stages and throughout adulthood if contractures do not limit positioning and if devices are tolerated. Motorized stand-and-drive wheelchairs obviate the need for transfers to use supported standing, decreasing the risk of falls and increasing the number of hours per day of functional, comfortable, supported standing (Supplemental Fig 5).

Serial Casting

Serial casting55,56 can be considered when stretching and orthotic use have not maintained adequate ROM and/or when surgery is not preferred or chosen.55,56 Serial casting for ambulatory individuals is used only if ambulation remains possible while casted with sufficient quadriceps strength to avoid compromising ambulation and losing function.55 In nonambulatory individuals, the risk of functional loss is less, but cast weight may compromise transfers, necessitating lift use, and may be contraindicated with severe contractures. Skin integrity and osteoporosis must also be considered. An experienced team is required for the successful use of serial casting.

KAFOs

The prolongation of ambulation for 2 to 4 years has historically been reported with KAFOs, with or without accompanying LE surgery, and associated with decreases in scoliosis and LE contracture, although with contextual qualifications, including individual, family, and team preferences, and greater success with experienced teams and in the absence of obesity.7,13,28,44,53 Individuals with DMD, who are now walking longer with glucocorticoids even without KAFOs, have differing height and body configurations at ambulation loss (decreased height, increased BMI, and increased relative hip abduction and/or external rotation versus spinal extension). These differences present challenges in wearing KAFOs, including an increased risk of fracture as a result of a higher risk of falls. Moreover, technological options, including increasingly routine use of stand-and-drive motorized wheelchairs, may be more common than KAFOs to maintain supported standing mobility. However, reports of KAFO use with glucocorticoids prolonging ambulation to even older ages,54 family satisfaction in spite of challenges,114 and situations in which KAFOs are the only means of supported standing suggest that KAFOs continue to be an appropriate option in some contexts. Rapidly advancing technology in robotics offers potentially improved future options. KAFO use should be viewed as therapeutic rather than functional, with care taken to support safety to minimize the risk of falls, and not used exclusive of motorized mobility, which is typically provided simultaneously or earlier for safe, optimal, functional independence; mobility; and participation in all settings.

Physical therapist collaboration with those in orthopedics to prevent falls and fractures and maintain or regain ambulation after a long bone fracture is increasingly emphasized.115 Extended ambulatory capacity, coupled with the risk of low-trauma fractures,54 increases the importance of fall prevention, including fall risk assessment across settings, pool shoes for fall prevention when walking on slippery surfaces, and the early use of lift and/or transfer equipment, especially in bathrooms, where transfer challenges compromise safety. Rapid appropriate team management of long bone fractures with associated rehabilitation is essential and may include the temporary use of assistive devices and other types of support to minimize the risk of loss of ambulation and prevent accelerated contracture and/or deformity.4,115 

OT is important for early assessment and intervention for learning, attentional, and sensory processing issues, which are increasingly understood as being important in DMD (Table 6).

TABLE 6

Areas for Specialized OT Assessment and Intervention

Learning differences (specific differences in DMD are increasingly identified, including differences between verbal and performance IQ and differences in verbal memory, dyslexia, dyscalculia, and dysgraphia) 
Attentional issues 
Sensory processing issues 
Fine motor 
ADL 
Computer access 
Assistive technology 
Swallowing and oral motor dysfunction 
Planning for academics and vocation in transition to adulthood 
Learning differences (specific differences in DMD are increasingly identified, including differences between verbal and performance IQ and differences in verbal memory, dyslexia, dyscalculia, and dysgraphia) 
Attentional issues 
Sensory processing issues 
Fine motor 
ADL 
Computer access 
Assistive technology 
Swallowing and oral motor dysfunction 
Planning for academics and vocation in transition to adulthood 

Physical therapists prescribe, monitor, and guide exercise in DMD on the basis of understanding potential effects of activity and exercise on dystrophin-deficient muscle. Concern about exercise hastening the progression of weakness in DMD is longstanding116,136 based on pathophysiology, including the risks of contraction-induced muscle injury and exercise-induced structural damage117,119,121,123,126 related to strength, the duration of contraction, and the load imposed.116,121,123,126,128,131,132 Other concerns include nitric oxide synthase dysfunction leading to increased ischemia during exercise127 and cardiac concerns, including a lack of correlation between skeletal and cardiac muscle involvement57,137,138 with moderately to severely reduced exercise capacity, as measured by cardiopulmonary exercise testing, even in the presence of normal or mildly impaired gross motor function and capacity.139,140 The balance between beneficial versus harmful effects of muscle activity are not fully understood. Certain amounts of muscle activity are assumed to be beneficial in preventing disuse atrophy, maintaining residual strength, providing or maintaining potential trophic influences of active movement, and maintaining functional status and flexibility,2,3,128,129,132,134 but eccentric muscle activity and maximal- or high-resistance exercise are believed to be detrimental2,3,123,126,128,132,134 and inappropriate across the life span because of potential contraction-induced muscle-fiber injury. Specifics regarding the optimal type, frequency, and intensity of exercise in DMD are not definitively known.7,22,33,74,116,136,139 Participation in regular, gentle aerobic functional activity, such as aquatics, cycling, and safe recreation-based activity, is recommended by some, especially early in the course of the disease, when residual strength is higher, with an emphasis on moderation, lower-duration activity, support of self-initiated rests, and the avoidance of overexertion and overwork weakness.2,3,7,74,116,136,139 Aquatics, with potential benefits for aerobic-conditioning respiratory exercise and support of gravity-minimized movement, is highly recommended for the early ambulatory through nonambulatory stages and into adulthood as long as it is medically safe.2,3,128,132,134 Cycling is recommended as a submaximal aerobic form of activity, with benefits of assisted cycling recently reported (Supplemental Fig 3).141 

Fibrosis (beginning in the newborn period, before extensive cell necrosis),109 the proliferation of connective tissue, and increased stiffness, increases loads (resistance) against which muscles must work, further taxing contractile units and potentially contributing to ischemia and vascular and structural impediments to regeneration. The role of active movement, positive or negative, on the fibrotic process and vascularity is not clear.

Individualized assessment and monitoring of activity levels is important. Significant muscle pain or myoglobinuria in the 24-hour period after a specific activity is a sign of overexertion and contraction-induced injury, and if it occurs, the activity should be modified.2 

Cardiac concerns regarding exercise include cardiomyopathy and/or arrhythmias,2,4,34,36,139,142 abnormalities of calcium regulation,34 and cardiac wall movement34; fibrosis34; fatty infiltration34; and conduction abnormalities.138 These typically progress to dilated cardiomyopathy with arrhythmias, including ventricular tachycardia.34 Early cardiac involvement can be present even before overt clinical manifestations.139 Symptoms may not present until cardiac involvement is more advanced because of limited physical activity and a lack of correlation between cardiac and skeletal muscle involvement,3,132,134,139 supporting caution in prescribing exercise for individuals with dystrophinopathies, who appear likely to have a reduced exercise capacity even when functioning well. Individuals with DMD should have early referral to cardiology for the identification and preventive management of cardiomyopathy.2,4,34,36,57,142 

AFOs are not typically indicated for use during ambulation because they tend to limit the compensatory movements needed for efficient ambulation, add weight that can compromise ambulation, and make it difficult to rise from the floor and climb stairs.2,143 During the late-ambulatory stage, KAFOs with locked knees can prolong ambulation but with use decreased, as described.

During the early ambulatory stage, lightweight manual mobility devices are appropriate for pushing the child on occasions when long-distance mobility demands exceed endurance. In the late-ambulatory stage and/or early nonambulatory stages, an ultralightweight manual wheelchair with custom seating (Table 5) to support spinal symmetry and LE alignment and swing-away footrests is necessary and may be used in situations without access or transport for motorized mobility. A variety of motorized mobility devices, including standing mobility devices, may be used intermittently for energy conservation and independent long-distance mobility by individuals who continue to walk (Supplemental Figs 2–11).

As functional community ambulation becomes more difficult, a motorized wheelchair is advocated. Custom seating and power-positioning components for the initial motorized wheelchair are important standards of care (Table 5), with power stand-and-drive having been shown to be used more successfully if initiated before the development of contracture and deformity.112 Custom seating for safety, support of optimal posture, and the prevention of contracture and deformity includes a solid seat with hip guides and a pressure relief cushion; a solid planar back with rigid lateral trunk supports; flip-down, swing-away, or removable knee adductors; and a headrest. Facial components on headrests may be needed in older individuals for adequate head support and symmetry. Swing-away or flip-up footrests facilitate transfers. Power-positioning components include power tilt and recline, power stand-and-drive, power-adjustable seat height, and separately elevating power-elevating leg rests. Elbow supports may be needed for UE support that keeps the hand on the joystick during position changes and on rough terrain. Retractable, swing-away joystick hardware and trays may be needed for access. Lights and blinkers are required for safety in evening community mobility. Ventilator holders are needed for those using ventilatory support (Supplemental Figs 2–11).

Referral to assistive technology (AT) specialists should be considered whenever function, independence, and participation are compromised, and is necessary when UE weakness affects reach, fine motor skills, and ADL. AT is helpful in optimizing fine motor skills, enhancing strategies for independence in ADL, and improving access to alternative computer, mobility, or environmental control (Table 7). Simple adaptations supporting UE function include elevated lap trays and/or desks, adaptive straws, a hands-free water pouch, and/or turntables if the hand cannot be brought to the mouth or if biceps strength is <3 in 5. More advanced AT options include motorized and nonmotorized mobile arm supports (considered at Brooke Upper Extremity Scale score ≥2), robotics, miniature-proportional joysticks, microswitches, Bluetooth capabilities, software and applications for computers, fall detection systems with built-in Global Positioning System detection, voice activation and texting systems on smartphones and tablets, and “smart home systems” that are able to interface with motorized wheelchairs.2 Key pinch, microswitches, mouth call buttons, and monitoring systems are considered if hand or voice weakness precludes the use of standard call buttons. Adaptive equipment for the support of ADL, safety, and the maintenance of skin integrity include power-adjustable beds with pressure-relieving mattresses; bathing and toileting equipment; lift and/or transfer devices, including hydraulic and motorized patient lifts; ceiling lifts (hoists); slide sheets; and environmental control options (Supplemental Figs 2–11).

TABLE 7

Adaptive Equipment and Assistive Technology

Equipment and TechnologyPurpose and Rationale
• Adapted and/or assisted cycling: adapted tricycles (with stand for indoor use in inclement weather); power-assisted bicycles and/or tricycles; free-standing (stationary) power-assisted cycling • To provide supported submaximal activity and movement in UE and LE cycling 
• Lifts • For safe functional transfers in all settings; may need >1 piece of equipment for different settings 
 • Stand-and-raise lifts: manual or motorized  • Require reasonably good ankle ROM and tolerance of supported weight-bearing. Allow easier clean-up and clothing adjustment after toileting 
 • Free-standing lift: motorized versus hydraulic with crank; can be portable  • Portable and motorized offer most options for safe functional transfers in numerous settings; free standing lifts do not provide transfer into tub or to surface if cannot get legs of lift under object to which being transferred 
 • Ceiling lifts  • Do not take up any floor space, can be used throughout house and between rooms; can transfer down into tub and out 
 • Wall-mounted lifts  • Do not take up floor space; may be used if cannot use ceiling mount 
 • Free-standing frames for “ceiling” lifts  • If ceiling does not accommodate ceiling-mounted lift 
• Bath, shower, and/or commode chairs • For safe support during bathing, tub and/or shower transfers, hygiene; typically used with handheld shower 
 • Tub benches padded with back support  • Can go in tub 
 • Hydraulic bath seats that descend into water  • Can go in tub; descend into water for soaking, may be useful before stretching 
 • Slider bath chairs  • Can go in tub; provides mechanical sliding transfer 
 • Roll-in shower chairs with tilt and seating system support  • Roll-in shower required 
 • Modified toilets: height, armrests, lift, and bidet  • Safety, hygiene 
• Modified motorized beds, pressure-relieving mattresses, lateral rotation mattresses and/or beds for position change and weight shift throughout the night • Pressure relief, maintenance of skin integrity, function, prevention and/or minimization of pain 
• Stair lifts • Access, safety, energy conservation, protection of muscle 
• Platform and/or porch lifts • Access, safety, energy conservation, protection of muscles 
• Ramps: fixed, modular, portable, foldable, and threshold • Access, safety, energy conservation, protection of muscles 
• Modified vehicles with lifts, adapted controls • Access, safe transport, participation, independent driving 
• Adapted sports equipment • Safety, activity, participation 
• Smart home systems, Bluetooth, infrared • Environmental control, safety, independence 
• Evacuation chairs for school and/or work fire evacuation • Safety, access 
• Fine motor and communication: pencil grips, ergonomic pens and pencils; “smart” pens, phones, tablets; computer adaptations, access; voice activation systems, call buttons; eye gaze systems • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 
• Mobile arm supports • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 
• Robotics • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 
Equipment and TechnologyPurpose and Rationale
• Adapted and/or assisted cycling: adapted tricycles (with stand for indoor use in inclement weather); power-assisted bicycles and/or tricycles; free-standing (stationary) power-assisted cycling • To provide supported submaximal activity and movement in UE and LE cycling 
• Lifts • For safe functional transfers in all settings; may need >1 piece of equipment for different settings 
 • Stand-and-raise lifts: manual or motorized  • Require reasonably good ankle ROM and tolerance of supported weight-bearing. Allow easier clean-up and clothing adjustment after toileting 
 • Free-standing lift: motorized versus hydraulic with crank; can be portable  • Portable and motorized offer most options for safe functional transfers in numerous settings; free standing lifts do not provide transfer into tub or to surface if cannot get legs of lift under object to which being transferred 
 • Ceiling lifts  • Do not take up any floor space, can be used throughout house and between rooms; can transfer down into tub and out 
 • Wall-mounted lifts  • Do not take up floor space; may be used if cannot use ceiling mount 
 • Free-standing frames for “ceiling” lifts  • If ceiling does not accommodate ceiling-mounted lift 
• Bath, shower, and/or commode chairs • For safe support during bathing, tub and/or shower transfers, hygiene; typically used with handheld shower 
 • Tub benches padded with back support  • Can go in tub 
 • Hydraulic bath seats that descend into water  • Can go in tub; descend into water for soaking, may be useful before stretching 
 • Slider bath chairs  • Can go in tub; provides mechanical sliding transfer 
 • Roll-in shower chairs with tilt and seating system support  • Roll-in shower required 
 • Modified toilets: height, armrests, lift, and bidet  • Safety, hygiene 
• Modified motorized beds, pressure-relieving mattresses, lateral rotation mattresses and/or beds for position change and weight shift throughout the night • Pressure relief, maintenance of skin integrity, function, prevention and/or minimization of pain 
• Stair lifts • Access, safety, energy conservation, protection of muscle 
• Platform and/or porch lifts • Access, safety, energy conservation, protection of muscles 
• Ramps: fixed, modular, portable, foldable, and threshold • Access, safety, energy conservation, protection of muscles 
• Modified vehicles with lifts, adapted controls • Access, safe transport, participation, independent driving 
• Adapted sports equipment • Safety, activity, participation 
• Smart home systems, Bluetooth, infrared • Environmental control, safety, independence 
• Evacuation chairs for school and/or work fire evacuation • Safety, access 
• Fine motor and communication: pencil grips, ergonomic pens and pencils; “smart” pens, phones, tablets; computer adaptations, access; voice activation systems, call buttons; eye gaze systems • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 
• Mobile arm supports • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 
• Robotics • Continuum of support in the presence of weakness, to decrease fatigue, increase efficiency of function, support independence 

AT assessment and intervention are focused on optimizing function and participation across the life span, which are particularly important during transitions between functional levels and transitioning into adulthood.

Extended ambulation, the importance of energy conservation for muscle preservation and function, and increased independence into adulthood require expanded technology for mobility, a greater variety of choices for different situations, and increased AT options for mobility, driving, and community access that are instrumental in participation, employment, and avoidance of social isolation. Vehicle adaptations increase options for community access, and adapted controls may allow for independent vehicle driving. Skill development via accessible public transportation, OT driving evaluation, and future driverless cars promise ongoing increases in independence.

The early development of independent decision-making and respectful and responsible delegation skills in children with DMD, supported by the use of AT, self-advocacy skills, the hiring and directing of aides, the use of service animals, and social participation foster transitions to independent adult function.

Funding for the support of AT and support services is critical, as is the education of families about funding opportunities, including private insurance, Medicaid, Medicaid Waiver programs, Medicare, Independent Living, Vocational Rehabilitation, Supplemental Security Income, Achieving a Better Life Experience accounts, and other funding sources, which vary depending on the country, state, and local environment.

Pain, which is considered the fifth vital sign, is important to assess in all individuals with DMD across the life span.67,73 A more uniform assessment of pain, however, does not always lead to successful management of pain, which is an important priority in transitions to adulthood and the management of DMD in adulthood.72 Pain of varying types and intensities may occur in DMD. Effective pain management requires an accurate determination of the cause and may require comprehensive team management. Postural correction, orthotic intervention, PT, adaptive equipment, assistive technology, and pharmacological interventions may all be required. Adaptive equipment and assistive technology should be used to emphasize the prevention and management of pain and optimize comfortable function and movement with transfer, bathing, and toileting equipment. Power-positioning components offering positional support and change, weight shift, and pressure relief on motorized wheelchairs and beds can be used as needed to maintain skin integrity and pain prevention or relief. Providers of pharmacological interventions must consider possible interactions with other medications (eg, steroids and nonsteroidal anti-inflammatory drugs) and side effects, particularly those that might negatively affect cardiac or respiratory function. Rarely, orthopedic intervention might be indicated for intractable pain that is amenable to surgery. Back pain, especially if the patient is receiving glucocorticoids, is an indication for careful assessment for vertebral fractures.2,4,144,145 

Key anticipatory discussions should occur before a time of crisis in each of the following areas. Care team members can reassure the patient and family that rather than being evidence of disease progression, these issues provide opportunities to discuss options for optimizing management:

  • plans for when stairclimbing becomes difficult;

  • continuum of options for energy conservation and safe, functional, independent mobility and participation in all settings;

  • fall risk assessment and prevention;

  • fracture management;

  • initiating supported standing;

  • transfers and/or access at home, at school, at work, and in the community;

  • consideration of KAFO use;

  • spine surgery;

  • strategies for optimizing ADL and self-feeding compromised by UE weakness or spine fusion; and

  • noninvasive ventilation and tracheostomy.

As disease-modifying treatments become available, questions will emerge regarding potential increases in exercise capacity and muscle recovery, optimizing potential benefit versus damage from specific types, durations, and frequency of exercise. Robotics and AT advances are anticipated to provide ever increasing functional independence, capacity for participation, and successful musculoskeletal management, and it will be important to explore ways that these developments can be used to benefit individuals with DMD.

     
  • ADL

    activities of daily living

  •  
  • AFO

    ankle-foot orthosis

  •  
  • AT

    assistive technology

  •  
  • DMD

    Duchenne muscular dystrophy

  •  
  • KAFO

    knee-ankle-foot orthosis

  •  
  • LE

    lower extremity

  •  
  • OT

    occupational therapy

  •  
  • PT

    physical therapy

  •  
  • ROM

    ranges of motion

  •  
  • UE

    upper extremity

The guidelines or recommendations in this article are not American Academy of Pediatrics policy, and publication herein does not imply endorsement.

Dr Case served as the chairperson of the Duchenne Muscular Dystrophy Care Considerations Rehabilitation Management Working Group as convened by the Centers for Disease Control and Prevention, drafted the initial manuscript, and reviewed and revised the manuscript; Drs Apkon, Eagle, and Matthews and Ms Gulyas, Ms Juel, Ms Newton, and Ms Posselt served in the Duchenne Muscular Dystrophy Care Considerations Rehabilitation Management Working Group as convened by the Centers for Disease Control and Prevention, contributed to the development of corresponding recommendations, and reviewed and revised the manuscript; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

*

Refs 1,2,4,6,12,14,16,19,21,23.

FUNDING: Supported in part by Cooperative Agreement, NU38OT000167, funded by the Centers for Disease Control and Prevention.

1
Bushby
K
,
Finkel
R
,
Birnkrant
DJ
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Lancet Neurol
.
2010
;
9
(
1
):
77
93
[PubMed]
2
Bushby
K
,
Finkel
R
,
Birnkrant
DJ
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.
Lancet Neurol
.
2010
;
9
(
2
):
177
189
[PubMed]
3
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [published correction appears in Lancet Neurol. 2018;17(6):495].
Lancet Neurol
.
2018
;
17
(
3
):
251
267
[PubMed]
4
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
, et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
Lancet Neurol
.
2018
;
17
(
4
):
347
361
[PubMed]
5
Birnkrant
DJ
,
Bushby
K
,
Bann
CM
et al;
DMD Care Considerations Working Group
.
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
.
Lancet Neurol
.
2018
;
17
(
5
):
445
455
6
Sheehan
DW
,
Birnkrant
DJ
,
Benditt
JO
, et al
.
Respiratory management of the patient with Duchenne muscular dystrophy.
Pediatrics
.
2018
;
142
(
suppl 2
):
e20180333H
7
Vignos
PJ
. Rehabilitation in progressive muscular dystrophy. In:
Licht
S
, ed.
Rehabilitation and Medicine
.
New Haven, CT
:
Licht
;
1968
:
593
615
8
Dubowitz
V
.
Progressive muscular dystrophy: prevention of deformities.
Clin Pediatr (Phila)
.
1964
;
3
:
323
328
[PubMed]
9
Roy
L
,
Gibson
DA
.
Pseudohypertrophic muscular dystrophy and its surgical management: review of 30 patients.
Can J Surg
.
1970
;
13
(
1
):
13
21
[PubMed]
10
McDonald
CM
,
Abresch
RT
,
Carter
GT
, et al
.
Profiles of neuromuscular diseases. Duchenne muscular dystrophy.
Am J Phys Med Rehabil
.
1995
;
74
(
suppl 5
):
S70
S92
[PubMed]
11
Siegel
IM
.
Pathomechanics of stance in Duchenne muscular dystrophy.
Arch Phys Med Rehabil
.
1972
;
53
(
9
):
403
406
[PubMed]
12
Siegel
IM
,
Weiss
LA
.
Postural substitution in Duchenne’s muscular dystrophy.
JAMA
.
1982
;
247
(
5
):
584
[PubMed]
13
Archibald
KC
,
Vignos
PJ
 Jr
.
A study of contractures in muscular dystrophy.
Arch Phys Med Rehabil
.
1959
;
40
(
4
):
150
157
[PubMed]
14
Sutherland
DH
,
Olshen
R
,
Cooper
L
, et al
.
The pathomechanics of gait in Duchenne muscular dystrophy.
Dev Med Child Neurol
.
1981
;
23
(
1
):
3
22
[PubMed]
15
Brooke
MH
,
Fenichel
GM
,
Griggs
RC
, et al
.
Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy.
Neurology
.
1989
;
39
(
4
):
475
481
[PubMed]
16
Johnson
EW
.
Walter J. Zeiter Lecture: pathokinesiology of Duchenne muscular dystrophy: implications for management.
Arch Phys Med Rehabil
.
1977
;
58
(
1
):
4
7
[PubMed]
17
Hsu
JD
,
Furumasu
J
.
Gait and posture changes in the Duchenne muscular dystrophy child.
Clin Orthop Relat Res
.
1993
;(
288
):
122
125
[PubMed]
18
Siegel
IM
.
Knee moments in Duchenne muscular dystrophy.
Lancet
.
1986
;
2
(
8513
):
977
978
[PubMed]
19
Wagner
MB
,
Vignos
PJ
 Jr
,
Carlozzi
C
.
Duchenne muscular dystrophy: a study of wrist and hand function.
Muscle Nerve
.
1989
;
12
(
3
):
236
244
[PubMed]
20
Dubowitz
V
.
Prevention of deformities.
Isr J Med Sci
.
1977
;
13
(
2
):
183
188
[PubMed]
21
Fowler
WM
 Jr
.
Rehabilitation management of muscular dystrophy and related disorders: II. Comprehensive care.
Arch Phys Med Rehabil
.
1982
;
63
(
7
):
322
328
[PubMed]
22
Miller
G
,
Dunn
N
.
An outline of the management and prognosis of Duchenne muscular dystrophy in Western Australia.
Aust Paediatr J
.
1982
;
18
(
4
):
277
282
[PubMed]
23
Scott
OM
,
Hyde
SA
,
Goddard
C
,
Jones
R
,
Dubowitz
V
.
Effect of exercise in Duchenne muscular dystrophy.
Physiotherapy
.
1981
;
67
(
6
):
174
176
[PubMed]
24
Scott
OM
,
Hyde
SA
,
Goddard
C
,
Dubowitz
V
.
Prevention of deformity in Duchenne muscular dystrophy. A prospective study of passive stretching and splintage.
Physiotherapy
.
1981
;
67
(
6
):
177
180
[PubMed]
25
Johnson
ER
,
Fowler
WM
 Jr
,
Lieberman
JS
.
Contractures in neuromuscular disease.
Arch Phys Med Rehabil
.
1992
;
73
(
9
):
807
810
[PubMed]
26
Johnson
EW
,
Kennedy
JH
.
Comprehensive management of Duchenne muscular dystrophy.
Arch Phys Med Rehabil
.
1971
;
52
(
3
):
110
114
[PubMed]
27
Vignos
PJ
 Jr
,
Spencer
GE
 Jr
,
Archibald
KC
.
Management of progressive muscular dystrophy in childhood.
JAMA
.
1963
;
184
:
89
96
[PubMed]
28
Vignos
PJ
,
Wagner
MB
,
Karlinchak
B
,
Katirji
B
;
Experience at the University Hospitals of Cleveland
.
Evaluation of a program for long-term treatment of Duchenne muscular dystrophy.
J Bone Joint Surg Am
.
1996
;
78
(
12
):
1844
1852
[PubMed]
29
Johnson
LB
,
Florence
JM
,
Abresch
RT
.
Physical therapy evaluation and management in neuromuscular diseases.
Phys Med Rehabil Clin N Am
.
2012
;
23
(
3
):
633
651
[PubMed]
30
McDonald
CM
.
Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery.
Phys Med Rehabil Clin N Am
.
1998
;
9
(
1
):
187
211
[PubMed]
31
Case
LE
. Physical therapy and orthotic devices. In:
Huml
R
, ed.
Muscular Dystrophy—A Concise Guide
. 1st ed.
Chan, Switzerland
:
Springer
;
2015
:
73
104
32
Henricson
E
,
Abresch
R
,
Han
JJ
, et al
.
The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year.
PLoS Curr
.
2013
;
5
[PubMed]
33
Vignos
PJ
 Jr
.
Physical models of rehabilitation in neuromuscular disease.
Muscle Nerve
.
1983
;
6
(
5
):
323
338
[PubMed]
34
Yilmaz
A
,
Sechtem
U
.
Cardiac involvement in muscular dystrophy: advances in diagnosis and therapy.
Heart
.
2012
;
98
(
5
):
420
429
[PubMed]
35
Bushby
K
,
Muntoni
F
,
Bourke
JP
.
107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands.
Neuromuscul Disord
.
2003
;
13
(
2
):
166
172
[PubMed]
36
McNally
EM
.
New approaches in the therapy of cardiomyopathy in muscular dystrophy.
Annu Rev Med
.
2007
;
58
:
75
88
[PubMed]
37
Buckner
JL
,
Bowden
SA
,
Mahan
JD
.
Optimizing bone health in Duchenne muscular dystrophy.
Int J Endocrinol
.
2015
;
2015
:
928385
38
McAdam
LC
,
Mayo
AL
,
Alman
BA
,
Biggar
WD
.
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy.
Acta Myol
.
2012
;
31
(
1
):
16
20
[PubMed]
39
Lebel
DE
,
Corston
JA
,
McAdam
LC
,
Biggar
WD
,
Alman
BA
.
Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up.
J Bone Joint Surg Am
.
2013
;
95
(
12
):
1057
1061
[PubMed]
40
Henricson
EK
,
Abresch
RT
,
Cnaan
A
, et al;
CINRG Investigators
.
The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures.
Muscle Nerve
.
2013
;
48
(
1
):
55
67
[PubMed]
41
McDonald
CM
,
Henricson
EK
,
Abresch
RT
, et al;
PTC124-GD-007-DMD Study Group
.
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
Muscle Nerve
.
2013
;
48
(
3
):
343
356
[PubMed]
42
Bushby
K
,
Finkel
R
,
Wong
B
, et al;
PTC124-GD-007-DMD Study Group
.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
.
2014
;
50
(
4
):
477
487
[PubMed]
43
Mendell
JR
,
Goemans
N
,
Lowes
LP
, et al;
Eteplirsen Study Group and Telethon Foundation DMD Italian Network
.
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.
Ann Neurol
.
2016
;
79
(
2
):
257
271
[PubMed]
44
Siegel
IM
.
Plastic-molded knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy.
Arch Phys Med Rehabil
.
1975
;
56
(
7
):
322
[PubMed]
45
Bakker
JP
,
de Groot
IJ
,
Beckerman
H
,
de Jong
BA
,
Lankhorst
GJ
.
The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature.
Clin Rehabil
.
2000
;
14
(
4
):
343
359
[PubMed]
46
Hyde
SA
,
Scott
OM
,
Goddard
CM
,
Dubowitz
V
.
Prolongation of ambulation in Duchenne muscular dystrophy by appropriate orthoses.
Physiotherapy
.
1982
;
68
(
4
):
105
108
[PubMed]
47
Siegel
IM
.
Prolongation of ambulation through early percutaneous tenotomy and bracing with plastic orthoses.
Isr J Med Sci
.
1977
;
13
(
2
):
192
196
[PubMed]
48
Spencer
GE
 Jr
,
Vignos
PJ
 Jr
.
Bracing for ambulation in childhood progressive muscular dystrophy.
J Bone Joint Surg Am
.
1962
;
44-A
:
234
242
[PubMed]
49
Vignos
PJ
 Jr
,
Archibald
KC
.
Maintenance of ambulation in childhood muscular dystrophy.
J Chronic Dis
.
1960
;
12
:
273
290
[PubMed]
50
Vignos
PJ
 Jr
,
Wagner
MB
,
Kaplan
JS
,
Spencer
GE
 Jr
.
Predicting the success of reambulation in patients with Duchenne muscular dystrophy.
J Bone Joint Surg Am
.
1983
;
65
(
6
):
719
728
[PubMed]
51
Rodillo
EB
,
Fernandez-Bermejo
E
,
Heckmatt
JZ
,
Dubowitz
V
.
Prevention of rapidly progressive scoliosis in Duchenne muscular dystrophy by prolongation of walking with orthoses.
J Child Neurol
.
1988
;
3
(
4
):
269
274
[PubMed]
52
Gardner-Medwin
D
.
Controversies about Duchenne muscular dystrophy. (2) Bracing for ambulation.
Dev Med Child Neurol
.
1979
;
21
(
5
):
659
662
[PubMed]
53
Dubowitz
V
.
Deformities in Duchenne dystrophy.
Neuromuscul Disord
.
2010
;
20
(
4
):
282
[PubMed]
54
Pardo
AC
,
Do
T
,
Ryder
T
,
Meyer
A
,
Miles
L
,
Wong
BL
.
Combination of steroids and ischial weight-bearing knee ankle foot orthoses in Duchenne’s muscular dystrophy prolongs ambulation past 20 years of age–a case report.
Neuromuscul Disord
.
2011
;
21
(
11
):
800
802
[PubMed]
55
Glanzman
AM
,
Flickinger
JM
,
Dholakia
KH
,
Bönnemann
CG
,
Finkel
RS
.
Serial casting for the management of ankle contracture in Duchenne muscular dystrophy.
Pediatr Phys Ther
.
2011
;
23
(
3
):
275
279
[PubMed]
56
Main
M
,
Mercuri
E
,
Haliloglu
G
,
Baker
R
,
Kinali
M
,
Muntoni
F
.
Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?
Neuromuscul Disord
.
2007
;
17
(
3
):
227
230
[PubMed]
57
Romfh
A
,
McNally
EM
.
Cardiac assessment in Duchenne and Becker muscular dystrophies.
Curr Heart Fail Rep
.
2010
;
7
(
4
):
212
218
[PubMed]
58
McDonald
CM
,
Henricson
EK
,
Abresch
RT
, et al;
PTC124-GD-007-DMD Study Group
.
The 6-minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
Muscle Nerve
.
2013
;
48
(
3
):
357
368
[PubMed]
59
McDonald
CM
,
Widman
L
,
Abresch
RT
,
Walsh
SA
,
Walsh
DD
.
Utility of a step activity monitor for the measurement of daily ambulatory activity in children.
Arch Phys Med Rehabil
.
2005
;
86
(
4
):
793
801
[PubMed]
60
McDonald
CM
,
Widman
LM
,
Walsh
DD
,
Walsh
SA
,
Abresch
RT
.
Use of step activity monitoring for continuous physical activity assessment in boys with Duchenne muscular dystrophy.
Arch Phys Med Rehabil
.
2005
;
86
(
4
):
802
808
[PubMed]
61
Mayhew
A
,
Cano
S
,
Scott
E
,
Eagle
M
,
Bushby
K
,
Muntoni
F
;
North Star Clinical Network for Paediatric Neuromuscular Disease
.
Moving towards meaningful measurement: rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.
Dev Med Child Neurol
.
2011
;
53
(
6
):
535
542
[PubMed]
62
Mayhew
AG
,
Cano
SJ
,
Scott
E
, et al;
North Star Clinical Network for Neuromuscular Disease
.
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy.
Dev Med Child Neurol
.
2013
;
55
(
11
):
1046
1052
[PubMed]
63
Mercuri
E
,
Mayhew
A
,
Muntoni
F
, et al;
TREAT-NMD Neuromuscular Network
.
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.
Neuromuscul Disord
.
2008
;
18
(
11
):
894
903
[PubMed]
64
Ricotti
V
,
Ridout
DA
,
Pane
M
, et al;
UK NorthStar Clinical Network
.
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.
J Neurol Neurosurg Psychiatry
.
2016
;
87
(
2
):
149
155
[PubMed]
65
Mercuri
E
,
Coratti
G
,
Messina
S
, et al
.
Revised North Star Ambulatory Assessment for young boys with Duchenne muscular dystrophy.
PLoS One
.
2016
;
11
(
8
):
e0160195
[PubMed]
66
Angelini
C
.
The role of corticosteroids in muscular dystrophy: a critical appraisal.
Muscle Nerve
.
2007
;
36
(
4
):
424
435
[PubMed]
67
Zebracki
K
,
Drotar
D
.
Pain and activity limitations in children with Duchenne or Becker muscular dystrophy.
Dev Med Child Neurol
.
2008
;
50
(
7
):
546
552
[PubMed]
68
Lager
C
,
Kroksmark
AK
.
Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.
Eur J Paediatr Neurol
.
2015
;
19
(
5
):
537
546
[PubMed]
69
Pangalila
RF
,
van den Bos
GA
,
Bartels
B
,
Bergen
M
,
Stam
HJ
,
Roebroeck
ME
.
Prevalence of fatigue, pain, and affective disorders in adults with Duchenne muscular dystrophy and their associations with quality of life.
Arch Phys Med Rehabil
.
2015
;
96
(
7
):
1242
1247
[PubMed]
70
Peltekova
I
,
Storr
M
.
Case 1: back pain in a boy with Duchenne muscular dystrophy.
Paediatr Child Health
.
2014
;
19
(
6
):
299
300
[PubMed]
71
Segal
LS
,
Odgers
R
,
Carpentieri
D
,
Shrader
MW
.
Back pain in Duchenne muscular dystrophy: steroids are not always the culprit.
J Pediatr Orthop B
.
2016
;
25
(
1
):
81
85
[PubMed]
72
Mularski
RA
,
White-Chu
F
,
Overbay
D
,
Miller
L
,
Asch
SM
,
Ganzini
L
.
Measuring pain as the 5th vital sign does not improve quality of pain management.
J Gen Intern Med
.
2006
;
21
(
6
):
607
612
[PubMed]
73
Silva
TD
,
Massetti
T
,
Monteiro
CB
, et al
.
Pain characterization in Duchenne muscular dystrophy.
Arq Neuropsiquiatr
.
2016
;
74
(
9
):
767
774
[PubMed]
74
Angelini
C
,
Tasca
E
.
Fatigue in muscular dystrophies.
Neuromuscul Disord
.
2012
;
22
(
suppl 3
):
S214
S220
[PubMed]
75
Davis
SE
,
Hynan
LS
,
Limbers
CA
, et al
.
The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales.
J Clin Neuromuscul Dis
.
2010
;
11
(
3
):
97
109
[PubMed]
76
Lue
YJ
,
Chen
SS
,
Lu
YM
.
Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men.
Disabil Rehabil
.
2017
;
39
(
14
):
1408
1413
[PubMed]
77
Dany
A
,
Barbe
C
,
Rapin
A
, et al
.
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease.
Qual Life Res
.
2015
;
24
(
11
):
2615
2623
[PubMed]
78
Carswell
A
,
McColl
MA
,
Baptiste
S
,
Law
M
,
Polatajko
H
,
Pollock
N
.
The Canadian Occupational Performance Measure: a research and clinical literature review.
Can J Occup Ther
.
2004
;
71
(
4
):
210
222
[PubMed]
79
Ruperto
N
,
Ravelli
A
,
Pistorio
A
, et al;
Paediatric Rheumatology International Trials Organisation
.
Cross-cultural adaptation and psychometric evaluation of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ) in 32 countries. Review of the general methodology.
Clin Exp Rheumatol
.
2001
;
19
(
4,
suppl 23
):
S1
S9
[PubMed]
80
Berg
M
,
Jahnsen
R
,
Frøslie
KF
,
Hussain
A
.
Reliability of the pediatric evaluation of disability inventory (PEDI).
Phys Occup Ther Pediatr
.
2004
;
24
(
3
):
61
77
[PubMed]
81
Hamilton
BB
,
Laughlin
JA
,
Fiedler
RC
,
Granger
CV
.
Interrater reliability of the 7-level functional independence measure (FIM)
.
Scand J Rehabil Med
.
1994
;
26
(
3
):
115
119
[PubMed]
82
Ottenbacher
KJ
,
Msall
ME
,
Lyon
NR
,
Duffy
LC
,
Granger
CV
,
Braun
S
.
Interrater agreement and stability of the functional independence measure for children (WeeFIM): use in children with developmental disabilities.
Arch Phys Med Rehabil
.
1997
;
78
(
12
):
1309
1315
[PubMed]
83
Davies
PL
,
Soon
PL
,
Young
M
,
Clausen-Yamaki
A
.
Validity and reliability of the school function assessment in elementary school students with disabilities.
Phys Occup Ther Pediatr
.
2004
;
24
(
3
):
23
43
[PubMed]
84
National Institutes of Health, Office of Strategic Coordination
;
The Common Fund
. PROMIS: patient-reported outcomes measurement information system (PROMIS) program assessment center. Available at: www.healthmeasures.net/explore-measurement-systems/promis. Accessed November 4, 2017
85
American Physical Therapy Association
.
Guide to physical therapist practice. Second Edition. American Physical Therapy Association.
Phys Ther
.
2001
;
81
(
1
):
9
746
86
Moyers
PA
;
American Occupational Therapy Association
.
The guide to occupational therapy practice.
Am J Occup Ther
.
1999
;
53
(
3
):
247
322
[PubMed]
87
Kakarot
N
,
Müller
F
.
Assessment of physical strain in younger and older subjects using heart rate and scalings of perceived exertion.
Ergonomics
.
2014
;
57
(
7
):
1052
1067
[PubMed]
88
Lansing
RW
,
Moosavi
SH
,
Banzett
RB
.
Measurement of dyspnea: word labeled visual analog scale vs. verbal ordinal scale.
Respir Physiol Neurobiol
.
2003
;
134
(
2
):
77
83
[PubMed]
89
Jeannet
PY
,
Aminian
K
,
Bloetzer
C
,
Najafi
B
,
Paraschiv-Ionescu
A
.
Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients.
Eur J Paediatr Neurol
.
2011
;
15
(
1
):
40
47
[PubMed]
90
Fowler
EG
,
Staudt
LA
,
Heberer
KR
, et al
.
Longitudinal community walking activity in Duchenne muscular dystrophy.
Muscle Nerve
.
2017
;
57
(
3
):
401
406
[PubMed]
91
Klingels
K
,
Mayhew
AG
,
Mazzone
ES
, et al;
Upper Limb Clinical Outcome Group
.
Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.
Dev Med Child Neurol
.
2017
;
59
(
2
):
224
231
[PubMed]
92
Simon
VA
,
Resende
MB
,
Simon
MA
,
Zanoteli
E
,
Reed
UC
.
Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents.
Arq Neuropsiquiatr
.
2011
;
69
(
1
):
19
22
[PubMed]
93
Reid
DT
,
Renwick
RM
.
Relating familial stress to the psychosocial adjustment of adolescents with Duchenne muscular dystrophy.
Int J Rehabil Res
.
2001
;
24
(
2
):
83
93
[PubMed]
94
Bendixen
RM
,
Lott
DJ
,
Senesac
C
,
Mathur
S
,
Vandenborne
K
.
Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy.
Disabil Rehabil
.
2014
;
36
(
22
):
1918
1923
[PubMed]
95
Bérard
C
,
Payan
C
,
Hodgkinson
I
,
Fermanian
J
,
Group
MFMCS
;
MFM Collaborative Study Group
.
A motor function measure for neuromuscular diseases. Construction and validation study.
Neuromuscul Disord
.
2005
;
15
(
7
):
463
470
[PubMed]
96
Young
NL
,
Varni
JW
,
Snider
L
, et al
.
The Internet is valid and reliable for child-report: an example using the Activities Scale for Kids (ASK) and the Pediatric Quality of Life Inventory (PedsQL).
J Clin Epidemiol
.
2009
;
62
(
3
):
314
320
[PubMed]
97
Lu
YM
,
Lue
YJ
.
Strength and functional measurement for patients with muscular dystrophy.
Muscular Dystrophy
.
2012
;
32
(
3
):
671
688
98
Connolly
AM
,
Florence
JM
,
Zaidman
CM
, et al;
MDA-DMD Clinical Research Network
.
Clinical trial readiness in non-ambulatory boys and men with Duchenne muscular dystrophy: MDA-DMD network follow-up.
Muscle Nerve
.
2016
;
54
(
4
):
681
689
[PubMed]
99
Wang
YC
,
Bohannon
RW
,
Kapellusch
J
,
Garg
A
,
Gershon
RC
.
Dexterity as measured with the 9-Hole Peg Test (9-HPT) across the age span.
J Hand Ther
.
2015
;
28
(
1
):
53
59; quiz 60
[PubMed]
100
Sears
ED
,
Chung
KC
.
Validity and responsiveness of the Jebsen-Taylor Hand Function Test.
J Hand Surg Am
.
2010
;
35
(
1
):
30
37
[PubMed]
101
Han
JJ
,
Kurillo
G
,
Abresch
RT
,
De Bie
E
,
Nicorici
A
,
Bajcsy
R
.
Upper extremity 3-dimensional reachable workspace analysis in dystrophinopathy using Kinect.
Muscle Nerve
.
2015
;
52
(
3
):
344
355
[PubMed]
102
Mayhew
A
,
Mazzone
ES
,
Eagle
M
, et al;
Performance of the Upper Limb Working Group
.
Development of the performance of the upper limb module for Duchenne muscular dystrophy.
Dev Med Child Neurol
.
2013
;
55
(
11
):
1038
1045
[PubMed]
103
Pane
M
,
Mazzone
ES
,
Sivo
S
, et al
.
The 6 minute walk test and performance of upper limb in ambulant Duchenne muscular dystrophy boys.
PLoS Curr
.
2014
;
6
[PubMed]
104
Connolly
AM
,
Florence
JM
,
Cradock
MM
, et al;
MDA DMD Clinical Research Network
.
Motor and cognitive assessment of infants and young boys with Duchenne muscular dystrophy: results from the Muscular Dystrophy Association DMD clinical research network.
Neuromuscul Disord
.
2013
;
23
(
7
):
529
539
[PubMed]
105
Piper
MC
,
Darrah
J
.
Motor Assessment of the Developing Infant
.
Philadelphia, PA
:
Saunders
;
1994
106
Russell
D
.
Gross Motor Function Measure (GMFM-66 & GMFM-88) User’s Manual
.
London, United Kingdom
:
Mac Keith Press
;
2002
107
Buckon
C
,
Sienko
S
,
Bagley
A
, et al
.
Can quantitative muscle strength and functional motor ability differentiate the influence of age and corticosteroids in ambulatory boys with Duchenne muscular dystrophy?
PLoS Curr
.
2016
;
8
[PubMed]
108
Dubowitz
V
.
Muscle Disorders in Childhood
. 2nd ed.
London, United Kingdom
:
Saunders
;
1995
109
Klingler
W
,
Jurkat-Rott
K
,
Lehmann-Horn
F
,
Schleip
R
.
The role of fibrosis in Duchenne muscular dystrophy.
Acta Myol
.
2012
;
31
(
3
):
184
195
[PubMed]
110
Hyde
SA
,
FlŁytrup
I
,
Glent
S
, et al
.
A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy.
Neuromuscul Disord
.
2000
;
10
(
4–5
):
257
263
[PubMed]
111
Center for Medicare and Medicaid Services
. Early and periodic screening, diagnostic and treatment (EPSDT) - a guide for states. 2014. Available at: https://www.medicaid.gov/medicaid/benefits/downloads/epsdt_coverage_guide.pdf. Accessed January 5, 2018
112
Townsend
EL
,
Bibeau
C
,
Holmes
TM
.
Supported standing in boys with Duchenne muscular dystrophy.
Pediatr Phys Ther
.
2016
;
28
(
3
):
320
329
[PubMed]
113
Seeger
BR
,
Caudrey
DJ
,
Little
JD
.
Progression of equinus deformity in Duchenne muscular dystrophy
.
Arch Phys Med Rehabil
.
1985
;
66
(
5
):
286
288
114
Garralda
ME
,
Muntoni
F
,
Cunniff
A
,
Caneja
AD
.
Knee-ankle-foot orthosis in children with Duchenne muscular dystrophy: user views and adjustment.
Eur J Paediatr Neurol
.
2006
;
10
(
4
):
186
191
[PubMed]
115
McCormick
A
.
Recovery of ambulation and functional mobility in boys with Duchenne muscular dystrophy following femoral fractures.
Neuromuscul Disord
.
2013
;
23
(
9–10
):
777
116
Engel
AG
,
Yamamoto
M
,
Fischbeck
KH
. Dystrophinopathies. In:
Engel
AG
,
Franzini-Armstrong
C
, eds.
Myology: Basic and Clinical
.
New York, NY
:
McGraw-Hill
;
1994
:
1133
1187
117
Miranda
A
. Diseased muscle in tissue culture. In:
Engel
AG
,
Franzini-Armstrong
C
, eds.
Myology: Basic and Clinical
.
New York, NY
:
McGraw-Hill
;
1994
:
1046
1107
118
Anderson
JE
,
Liu
L
,
Kardami
E
.
Distinctive patterns of basic fibroblast growth factor (bFGF) distribution in degenerating and regenerating areas of dystrophic (mdx) striated muscles.
Dev Biol
.
1991
;
147
(
1
):
96
109
[PubMed]
119
Hoffman
EP
,
Gorospe
JRM
.
The animal models of Duchenne muscular dystrophy: windows on the pathophysiological consequences of dystrophin deficiency.
Curr Top Membr
.
1991
;
38
:
113
154
120
Fowler
WM
 Jr
.
Importance of overwork weakness.
Muscle Nerve
.
1984
;
7
(
6
):
496
499
[PubMed]
121
Jackson
MJ
.
Molecular mechanisms of muscle damage.
Mol Cell Biol Hum Dis Ser
.
1993
;
3
:
257
282
[PubMed]
122
McDonald
CM
.
Physical activity, health impairments, and disability in neuromuscular disease.
Am J Phys Med Rehabil
.
2002
;
81
(
suppl 11
):
S108
S120
[PubMed]
123
Petrof
BJ
.
The molecular basis of activity-induced muscle injury in Duchenne muscular dystrophy.
Mol Cell Biochem
.
1998
;
179
(
1–2
):
111
123
[PubMed]
124
McArdle
A
,
Edwards
RH
,
Jackson
MJ
.
Effects of contractile activity on muscle damage in the dystrophin-deficient mdx mouse.
Clin Sci (Lond)
.
1991
;
80
(
4
):
367
371
[PubMed]
125
McNeil
PL
,
Khakee
R
.
Disruptions of muscle fiber plasma membranes. Role in exercise-induced damage.
Am J Pathol
.
1992
;
140
(
5
):
1097
1109
[PubMed]
126
Allen
DG
.
Eccentric muscle damage: mechanisms of early reduction of force.
Acta Physiol Scand
.
2001
;
171
(
3
):
311
319
[PubMed]
127
Rando
TA
.
Role of nitric oxide in the pathogenesis of muscular dystrophies: a “two hit” hypothesis of the cause of muscle necrosis.
Microsc Res Tech
.
2001
;
55
(
4
):
223
235
[PubMed]
128
Eagle
M
.
Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002.
Neuromuscul Disord
.
2002
;
12
(
10
):
975
983
[PubMed]
129
Vignos
PJ
 Jr
,
Watkins
MP
.
The effect of exercise in muscular dystrophy.
JAMA
.
1966
;
197
(
11
):
843
848
[PubMed]
130
de Lateur
BJ
,
Giaconi
RM
.
Effect on maximal strength of submaximal exercise in Duchenne muscular dystrophy.
Am J Phys Med
.
1979
;
58
(
1
):
26
36
[PubMed]
131
Fowler
WM
 Jr
,
Taylor
M
.
Rehabilitation management of muscular dystrophy and related disorders: I. The role of exercise.
Arch Phys Med Rehabil
.
1982
;
63
(
7
):
319
321
[PubMed]
132
Fowler
WM
 Jr
.
Role of physical activity and exercise training in neuromuscular diseases.
Am J Phys Med Rehabil
.
2002
;
81
(
suppl 11
):
S187
S195
[PubMed]
133
Armstrong
RB
,
Warren
GL
,
Warren
JA
.
Mechanisms of exercise-induced muscle fibre injury.
Sports Med
.
1991
;
12
(
3
):
184
207
[PubMed]
134
Abresch
RT
,
Carter
GT
,
Han
JJ
,
McDonald
CM
.
Exercise in neuromuscular diseases.
Phys Med Rehabil Clin N Am
.
2012
;
23
(
3
):
653
673
[PubMed]
135
Sockolov
R
,
Irwin
B
,
Dressendorfer
RH
,
Bernauer
EM
.
Exercise performance in 6-to-11-year-old boys with Duchenne muscular dystrophy.
Arch Phys Med Rehabil
.
1977
;
58
(
5
):
195
201
[PubMed]
136
Ansved
T
.
Muscular dystrophies: influence of physical conditioning on the disease evolution.
Curr Opin Clin Nutr Metab Care
.
2003
;
6
(
4
):
435
439
[PubMed]
137
Shirokova
N
,
Niggli
E
.
Cardiac phenotype of Duchenne muscular dystrophy: insights from cellular studies.
J Mol Cell Cardiol
.
2013
;
58
:
217
224
[PubMed]
138
Perloff
JK
.
Cardiac rhythm and conduction in Duchenne’s muscular dystrophy: a prospective study of 20 patients.
J Am Coll Cardiol
.
1984
;
3
(
5
):
1263
1268
[PubMed]
139
Bartels
B
,
Takken
T
,
Blank
AC
,
van Moorsel
H
,
van der Pol
WL
,
de Groot
JF
.
Cardiopulmonary exercise testing in children and adolescents with dystrophinopathies: a pilot study.
Pediatr Phys Ther
.
2015
;
27
(
3
):
227
234
[PubMed]
140
Case
LE
,
Hartzell
AS
.
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study"
.
Pediatr Phys Ther
.
2015
;
27
(
3
):
235
141
Jansen
M
,
van Alfen
N
,
Geurts
AC
,
de Groot
IJ
.
Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial “no use is disuse”.
Neurorehabil Neural Repair
.
2013
;
27
(
9
):
816
827
[PubMed]
142
American Academy of Pediatrics Section on Cardiology and Cardiac Surgery
.
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
Pediatrics
.
2005
;
116
(
6
):
1569
1573
[PubMed]
143
Townsend
EL
,
Tamhane
H
,
Gross
KD
.
Effects of AFO use on walking in boys with Duchenne muscular dystrophy: a pilot study.
Pediatr Phys Ther
.
2015
;
27
(
1
):
24
29
[PubMed]
144
Talim
B
,
Malaguti
C
,
Gnudi
S
,
Politano
L
,
Merlini
L
.
Vertebral compression in Duchenne muscular dystrophy following deflazacort.
Neuromuscul Discord
.
2002
;
12
(
3
):
294
295
145
Bothwell
JE
,
Gordon
KE
,
Dooley
JM
,
MacSween
J
,
Cummings
EA
,
Salisbury
S
.
Vertebral fractures in boys with Duchenne muscular dystrophy.
Clin Pediatr (Phila)
.
2003
;
42
(
4
):
353
356

Competing Interests

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

FINANCIAL DISCLOSURE: Dr Case has received honoraria from the Genzyme Corporation of Sanofi; has participated in research supported by the Genzyme Corporation of Sanofi, PTC Therapeutics, the George and Mary Ann Leal Foundation, Families of Spinal Muscular Atrophy, Enobia Pharma and Alexion Pharmaceuticals, Amicus, the Robertson Foundation, the Marcus Foundation, GlaxoSmithKline, Eli Lilly and Company, the Cooperative International Neuromuscular Research Group, Valerion Therapeutics, Pfizer, Prosensa, BioMarin Pharmaceutical, Ionis Pharmaceuticals, Biogen, Ultragenyx Pharmaceutical, NS Pharma, Reveragen, Roivant Sciences, Therapeutic Research in Neuromuscular Disorders Solutions, Cytokinetics, and AveXis; has been awarded grant support by the National Skeletal Muscle Research Center; and is a member of the Pompe Registry North American Board of Advisors for the Genzyme Corporation of Sanofi. Dr Apkon is a site principal investigator on several clinical trials sponsored by both Sarepta Therapeutics and PTC Therapeutics (funding is granted to her institution); the other authors have indicated they have no financial relationships relevant to this article to disclose.

Supplementary data