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Physiotherapy Assessment & Management of Muscular Dystrophy

Overview

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Part 1: Physiotherapy Assessment

1.1 Initial History Taking

• Chief complaint: nature and onset of weakness, falls, difficulty rising from floor
• Functional history: loss of milestones (children), ADL limitations, stair climbing, wheelchair use
• Respiratory history: dyspnea, sleep disturbance, morning headaches, recurrent chest infections
• Family history: genetic pedigree
• Medical/surgical history: corticosteroid use, cardiac investigations, orthopaedic surgeries
• Medications: corticosteroids (deflazacort, prednisolone in DMD), heart medications
• Psychosocial history: school/work participation, caregiver burden, quality of life

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1.2 Musculoskeletal Assessment

Muscle Strength Testing

• Hip flexors, extensors, abductors
• Knee flexors and extensors
• Ankle dorsiflexors and plantarflexors
• Shoulder abductors, elbow flexors/extensors
• Neck flexors (often early weakness in myotonic dystrophy)
• Grip and pinch strength

Range of Motion (ROM) and Flexibility

• Goniometry for all major joints
• Prone hip extension, Thomas test, popliteal angle
• Ankle dorsiflexion ROM — critical predictor of ambulation loss
• Contractures: hip flexors, knee flexors, Achilles tendon (most common in DMD)
• Spine: thoracolumbar scoliosis screening — Cobb angle measurement referral if suspected

Posture and Alignment

• Lumbar hyperlordosis (compensatory in proximal weakness)
• Pelvic tilt, winging of scapulae (FSHD)
• Leg length discrepancy
• Foot deformities: equinovarus, pes planus

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1.3 Functional Assessments

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1.4 Gait Analysis

• Observational gait analysis: Trendelenburg gait (hip abductor weakness), equinus, toe-walking, waddling/Duchenne gait
• Instrumented gait analysis (where available): kinematics, kinetics, EMG
• Energy expenditure during ambulation
• Assistive device assessment (crutches, rollator, KAFOs)
• Footwear and orthotic review

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1.5 Respiratory Assessment

• Screen for symptoms of nocturnal hypoventilation: morning headaches, fatigue, poor sleep
• Assess secretion management: cough effectiveness, sputum volume

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1.6 Spinal and Postural Assessment

• Scoliosis: common in DMD post-ambulation loss (~90% develop scoliosis after wheelchair use)
• Adam's forward bend test as screening tool
• Refer for radiological Cobb angle if suspected
• Kyphosis in FSHD, myotonic dystrophy
• Cervical and thoracic extensor weakness

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1.7 Pain Assessment

• Often underreported in MD
• Musculoskeletal pain from overuse, poor posture, contractures
• Neuropathic pain (myotonic dystrophy)
• VAS / NRS / Brief Pain Inventory

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1.8 Activity and Participation (ICF Framework)

• Body function/structure: strength, ROM, respiratory function
• Activity: ADLs, mobility, self-care
• Participation: school, work, social interaction
• Environmental factors: home accessibility, equipment, support
• Personal factors: motivation, coping, self-efficacy

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Part 2: Physiotherapy Management

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2.1 Staging Framework

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2.2 Exercise Therapy

Strengthening Exercise

• Submaximal, low-resistance exercise is safe; eccentric overload and high-intensity exercise is contraindicated — dystrophic muscle is vulnerable to contraction-induced injury
• Recommended intensity: ≤60% of 1-RM, avoiding exhaustion
• Circuit training, aquatic therapy, functional strengthening are preferred
• Frequency: 3x/week; avoid exercise-induced fatigue
• Aquatic/Hydrotherapy: buoyancy reduces joint loading; warmth reduces spasticity; improves strength, ROM, and mood; recommended especially when land-based exercise is difficult

Aerobic/Cardiovascular Exercise

• Low-to-moderate intensity aerobic training improves cardiorespiratory fitness without accelerating muscle degeneration
• Cycling (active or passive), swimming, walking
• Target: 50–70% max heart rate
• Monitor for fatigue, myalgia, or dark urine (myoglobinuria) as signs of overexertion

Evidence Summary

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2.3 Contracture Prevention and Stretching

• Ankle plantarflexors (gastrocnemius-soleus): critical in DMD
• Hip flexors: prone lying ≥30 min/day
• Knee flexors (hamstrings)
• Wrist flexors (myotonic dystrophy)
• Elbow flexors, finger flexors (late stages)

• Slow, sustained stretch, 20–30 seconds per repetition, 3–5 reps
• Never force to the point of pain
• Use prolonged positioning (standing frames, splints) as adjuncts

• Night splints (AFOs): maintain ankle dorsiflexion, delay Achilles contracture
• Standing frames/tilt tables: weight-bearing to reduce lower limb contractures, maintain bone density, improve bowel function
• Prone lying: counteracts hip flexor and knee flexor contractures

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2.4 Orthotic Management

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2.5 Respiratory Physiotherapy

Secretion Clearance Techniques

Breath Stacking / Lung Volume Recruitment (LVR)

• Used to increase peak cough flow and prevent progressive atelectasis
• Manual Ambu bag stacking, glossopharyngeal breathing
• Indicated when MIC (Maximum Insufflation Capacity) > FVC

Ventilatory Support

• Non-invasive ventilation (NIV): first-line when FVC <50% predicted, symptomatic nocturnal hypoventilation, or SpO₂ <95%
• Physiotherapy role: education, mask fitting, tolerance training, troubleshooting
• Tracheostomy ventilation (invasive): considered when NIV becomes insufficient

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2.6 Mobility and Assistive Technology

• Walking aids: progression from no aids → forearm crutches → rollator
• Power wheelchair: when ambulation ceases; tilt-in-space, headrest, pressure relief
• Manual wheelchair: for transport/caregiver-assisted mobility
• Adaptive seating: custom moulded seating for scoliosis/poor trunk control
• Environmental control systems: smart home technology for late-stage non-ambulant patients
• Hoists and transfer aids: ceiling track hoists, standing transfers
• Communication aids: where upper limb function is severely limited

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2.7 Postural Management and Seating

• Critical in non-ambulant stage to manage scoliosis, pressure ulcer risk, and respiratory function
• Tilt-in-space wheelchair to redistribute pressure
• Lateral supports, thoracic supports for scoliosis
• Pressure mapping to optimize seating
• Regular repositioning schedule; education of caregivers
• Avoid prolonged sitting in kyphotic or asymmetric postures

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2.8 Pain Management

• Postural correction and ergonomic advice
• TENS, heat/cold therapy
• Aquatic therapy for pain relief
• Education on activity pacing
• Referral to pain specialist if neuropathic component (especially myotonic dystrophy)

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2.9 Fatigue Management

• Activity pacing: energy conservation strategies, rest breaks
• Graded activity programs: avoiding boom-bust cycles
• Prioritization of activities
• Assistive devices to reduce energy expenditure
• Sleep hygiene; address nocturnal hypoventilation

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2.10 Falls Prevention

• Balance training (proprioception, postural reactions) within safe limits
• Hip protectors
• Environmental modifications (remove trip hazards, grab rails)
• Education on safe falling technique and floor transfers
• Emergency call systems

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2.11 Aquatic Physiotherapy

• Particularly beneficial when land-based exercise is limited
• Reduces joint stress, allows greater range of movement
• Improves respiratory function (hydrostatic pressure on chest wall)
• Psychological benefits
• Precautions: monitor fatigue closely; ensure pool exit strategy for non-ambulant patients; avoid if respiratory reserve is critically low

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2.12 Palliative and End-Stage Care

• Comfort positioning and pressure care
• Respiratory symptom management (dyspnea, secretion burden)
• Communication support
• Caregiver education and support
• Liaison with palliative care team
• Quality of life focus over functional gains

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Part 3: Disease-Specific Considerations

Duchenne Muscular Dystrophy (DMD)

• Most extensively researched; evidence base is strongest
• Corticosteroids (deflazacort/prednisolone): slow progression; physiotherapy must account for steroid-related effects (obesity, osteoporosis, vertebral fractures)
• Maintain ambulation as long as possible (walking prolongs lung and spine health)
• Transition to KAFO + spinal bracing when knees start to buckle
• Spinal surgery (posterior spinal fusion): when Cobb angle >20° and FVC >30%; physiotherapy is critical pre- and post-operatively
• Cardiac physiotherapy input (heart failure management, exercise prescription)

Becker MD

• Slower progression; many remain ambulant into adulthood
• Similar principles as DMD but less aggressive timeline
• Cardiac involvement (dilated cardiomyopathy) often precedes severe weakness — exercise prescription must account for cardiac status

Facioscapulohumeral (FSHD)

• Scapular stabilization exercises
• Scapular fixation surgery considered in severe cases
• Foot drop: AFO
• Pain management prominent (chronic pain is a major complaint)
• Asymmetric weakness; individual assessment critical

Limb-Girdle MD (LGMD)

• Wide heterogeneity between subtypes
• General principles apply: proximal strengthening, stretch, aquatic therapy
• Monitor respiratory and cardiac involvement by subtype

Myotonic Dystrophy (DM1/DM2)

• Distal weakness (differentiates from most MDs); grip weakness, foot drop
• Myotonia: grip myotonia, percussion myotonia — warm-up exercises, avoid cold
• Fatigue and hypersomnia: fatigue management strategies essential
• Dysphagia: speech and language therapy input, positioning for feeding
• Cognitive and behavioural features: adjust communication and education accordingly
• Respiratory involvement: often subclinical early; regular spirometry essential

Emery-Dreifuss MD

• Early contractures (elbow flexors, Achilles, cervical extensors) even before significant weakness — aggressive stretching from diagnosis
• Cardiac arrhythmias and conduction defects: exercise must be prescribed with cardiology guidance

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Part 4: Goal-Setting and Outcome Monitoring

SMART Goals

Outcome Measures by Domain

Monitoring Frequency (DMD example)

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Part 5: Multidisciplinary Team (MDT) Collaboration

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Summary

1. Regular structured assessment using validated, disease-specific tools
2. Safe, submaximal exercise — avoid eccentric overload and exhaustion
3. Daily stretching to delay contractures
4. Respiratory physiotherapy started early, progressed to assisted cough and NIV as FVC declines
5. Orthotic management to prolong ambulation and prevent deformity
6. Functional mobility and assistive technology optimization at each stage
7. MDT collaboration throughout the disease course
8. Stage-appropriate goals — shifting from preservation of function to quality of life and comfort in advanced disease