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BMD (Bone Mineral Density) - PG Level Physiotherapy: Assessment & Management

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1. DEFINITION & OVERVIEW

Each 1 SD decrease in T-score increases fracture risk by 1.5-2x; risk increases exponentially below -2.5. - Goldman-Cecil Medicine, p. 2622

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2. MEASUREMENT TECHNIQUES

2a. Gold Standard: Dual-Energy X-ray Absorptiometry (DXA)

• Measures areal BMD (g/cm²) at lumbar spine (L1-L4), proximal femur (total hip, femoral neck), and distal radius
• Low radiation dose (~1-10 µSv)
• Preferred sites: lumbar spine AND hip (both should be measured)
• Femoral neck and total hip are the best overall predictors of hip fracture
• Total hip preferred for monitoring (less affected by positioning, OA changes)
• Limitations: Cannot distinguish low BMD from osteomalacia; degenerative changes (facet OA, aortic calcification) can spuriously elevate lumbar spine BMD

2b. Quantitative Computed Tomography (QCT)

• Provides true volumetric BMD
• Can be equivalent to DXA hip measurements; may use WHO T-score criteria
• FDA-approved Biomechanical CT (BCT) assesses bone strength via finite element analysis
• Most useful when DXA is not possible (bilateral hip prostheses, prior lumbar fusion)
• Spinal QCT provides fracture risk data but WHO T-score criteria cannot be applied

2c. Quantitative Ultrasound (QUS)

• Measures bone at calcaneus - attenuation and speed of sound
• No radiation; cheaper; portable
• Cannot diagnose osteoporosis by WHO criteria
• Useful as a screening/triage tool in resource-limited settings

2d. High-Resolution pQCT (HRpQCT) & micro-MRI

• Research tools; may further refine fracture risk prediction
• Not used clinically for routine BMD diagnosis

2e. Trabecular Bone Score (TBS)

• A textural index derived from DXA lumbar spine image
• Reflects bone microarchitecture quality independent of BMD
• Poor TBS (≤1.23) = degraded microarchitecture; Intermediate (1.23-1.31); Normal (≥1.31)
• Can significantly add to FRAX fracture risk estimation
• Used as adjunct, not replacement, for BMD

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3. PHYSIOTHERAPY ASSESSMENT

3a. Indications for BMD Testing (ISCD 2019 Guidelines)

• All women ≥65 years and men ≥70 years regardless of risk factors
• Postmenopausal women and men aged 50-70 with risk factors present
• Women in menopausal transition with low body weight, prior low-trauma fracture, or high-risk medications
• Adults with fragility fracture
• Adults on medications causing bone loss (glucocorticoids, aromatase inhibitors, anticonvulsants, GnRH analogues, PPIs, SSRIs, thiazolidinediones)
• Anyone being considered for or currently on pharmacological therapy
• Patients with spinal cord injury, undergoing orthopaedic procedures, or transgender patients
• Rheumatology 2-Vol Set, p. 4157

3b. Physiotherapy History & Risk Factor Assessment

• Sedentary lifestyle / physical inactivity
• Smoking, alcohol excess (>3 units/day)
• Low calcium/vitamin D intake
• Low body weight (BMI <20)
• Falls history and fall risk factors

• Age, female sex, white/Asian ethnicity
• Premature menopause (<45 years), primary hypogonadism
• Family history of hip fracture (parental)
• Prior fragility fracture

• Glucocorticoid use (≥5 mg prednisone/day ≥3 months)
• Rheumatoid arthritis, IBD, coeliac disease
• Hyperparathyroidism, hyperthyroidism
• Chronic kidney disease, liver disease
• Immobilisation, paralysis

3c. Physiotherapy Physical Assessment

• Thoracic kyphosis (Dowager's hump), forward head posture
• Height loss measurement (>4 cm loss is a red flag for silent vertebral fracture)
• Wall-occiput distance (normal = 0; >5 cm suggests thoracic kyphosis)
• Rib-pelvis distance (normal ≥2 fingers; reduced in vertebral fractures)

• Berg Balance Scale (BBS)
• Timed Up and Go test (TUG) - >12 seconds = increased fall risk
• Four Test Balance Scale
• Functional Reach Test
• Single Leg Stand test

• Manual Muscle Testing (MMT)
• Grip dynamometry (low grip = surrogate for low bone mass)
• Core and paraspinal muscle endurance (Sorensen Test, McGill battery)

• Gait speed, stride length, cadence
• Slow gait speed (<0.8 m/s) is associated with fracture risk

• 30-second Chair Stand Test (lower limb power)
• 6-Minute Walk Test (aerobic capacity)
• FRAX Tool: 10-year probability of major osteoporotic fracture and hip fracture using clinical risk factors ± BMD

• VAS/NRS for back pain
• Identify acute vertebral fracture (sudden severe mid-thoracic/lumbar pain, kyphotic deformity, height loss)

• QUALEFFO (Quality of Life questionnaire for Osteoporosis)
• ECOS-16 (Assessment of Health-Related Quality of Life in Osteoporosis)
• OPAQ (Osteoporosis Assessment Questionnaire)

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4. PHYSIOTHERAPY MANAGEMENT

4a. Goals of Physiotherapy

1. Prevent further BMD loss or stimulate bone formation
2. Reduce fracture risk (especially hip and vertebral)
3. Fall prevention
4. Improve posture, balance, and functional capacity
5. Pain management (in acute vertebral fracture)
6. Patient education and self-management

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4b. Exercise Prescription for BMD

i. Weight-Bearing Impact Exercise

• Walking, jogging, aerobics, dancing, stair climbing
• Mechanical loading through the skeleton stimulates osteoblast activity (Wolff's Law)
• Moderate-impact activities: jogging, hiking
• High-impact activities: jumping, hopping (contraindicated in severe osteoporosis/recent fracture)
• Recommendation (SIGN/APTA CPG): Static weight-bearing (SWB) exercises such as single-leg standing slow BMD decline at the hip in postmenopausal women (Grade B)

ii. Progressive Resistance Strength Training (PRST)

• Most evidence-based intervention for femoral neck BMD
• Systematic review (Hsu et al., 2024, PM&R): Moderate, statistically significant benefit on femoral neck BMD (Hedges' g = 0.583; 95% CI 0.031-1.135); no significant effect on lumbar spine BMD (g = 0.190)
• Optimal Parameters (Zhao et al., 2025, J Orthop Surg Res - Meta-analysis):
  • Frequency: 3×/week
  • Intensity: 60-85% 1RM
  • Duration: ≥6 months
  • Include major muscle groups: quadriceps, hip abductors/extensors, paraspinals, upper back
• Key exercises: Squats, lunges, deadlifts, leg press, hip extension, seated row, lat pulldown

iii. Balance and Proprioception Training

• Reduces fall risk independent of BMD effects
• Tai Chi: reduces fall risk and improves BMD; meta-analysis (Zhang & Chen, 2024, J Orthop Surg Res) confirms beneficial effects on bone health and fall prevention
• Balance board, perturbation training, dynamic balance activities
• Progress from static (double-leg stand) → semi-dynamic → dynamic tasks

iv. Postural Correction & Spinal Extension Exercises

• Targets thoracic kyphosis (key deformity)
• Spinal extension exercises (McKenzie extension, prone press-ups, thoracic extension over foam roller)
• Evidence: Spinal extension exercises reduce risk of new vertebral fractures
• Avoid spinal flexion exercises (sit-ups, crunches, rowing in flexion) - flexion loading increases vertebral compression fracture risk
• Posture retraining with scapular retraction, thoracic extension, core stabilization

v. Traditional Chinese/Mind-Body Exercises

• Tai Chi (Yang style): Best evidence among mind-body approaches; reduces falls, improves balance, mild positive effect on BMD (femoral neck)
• Qigong, Wushu: Emerging evidence; systematic reviews (Hou et al., 2024; Liu et al., 2024) show beneficial effects on BMD in menopausal women
• Yoga: Improves flexibility and balance; some evidence for positive effects on lumbar spine BMD

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4c. FITT Principle for Osteoporosis Exercise

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4d. Fall Prevention Programme

1. Environmental modification - remove trip hazards, improve lighting, grab rails
2. Footwear assessment - thin, hard-soled shoes improve proprioception
3. Hip protectors - worn during high-risk activities (evidence limited but practical)
4. Medication review referral - identify polypharmacy, sedatives, antihypertensives (fall-risk drugs)
5. Assistive devices - walking sticks, frames when appropriate
6. Multifactorial balance training - as above (Tai Chi, single-leg stance, perturbation training)
7. Vision referral - impaired vision is an independent fall risk factor

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4e. Pain Management (Acute Vertebral Fracture)

• Relative rest in acute phase (1-2 weeks), then graded mobilization
• Positioning in mild extension / prone lying
• TENS, heat therapy for pain modulation
• Thoracolumbosacral orthosis (TLSO) - spinal brace can reduce pain, improve posture, and prevent further collapse
• Graduated walking programme
• Gentle isometric paraspinal exercises when pain allows
• Hydrotherapy (aquatic physiotherapy): offloads spine, allows early mobilization, reduces pain

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4f. Non-Exercise Physiotherapy Interventions

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4g. Non-Pharmacological Nutritional Guidance (PT referral / advice)

• Calcium: 1000-1200 mg/day (dairy, leafy greens, fortified foods)
• Vitamin D: 800-2000 IU/day (sunlight exposure + supplements); critical for calcium absorption and muscle function
• Adequate protein intake (1.0-1.2 g/kg/day in older adults)
• Limit alcohol (<2 units/day), eliminate smoking, limit caffeine

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4h. Pharmacological Management (for PT awareness)

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5. VERTEBRAL FRACTURE ASSESSMENT (VFA) in Physiotherapy Context

• T-score < -1.0 AND any of:
  • Women ≥70 / Men ≥80 years
  • Historical height loss >4 cm (>1.5 inches)
  • Self-reported undocumented prior vertebral fracture
  • Glucocorticoid therapy ≥5 mg prednisone/day
• Rheumatology 2-Vol Set, p. 4206

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6. SERIAL BMD MONITORING IN PHYSIOTHERAPY

• Baseline BMD before starting exercise programme
• Repeat DXA at 1-2 years after starting treatment (pharmacological or exercise)
• Always measure at same DXA machine (inter-machine variability confounds results)
• Monitoring tracks treatment response, adherence, and secondary causes of ongoing bone loss
• Least Significant Change (LSC): Statistical threshold to distinguish true BMD change from measurement error (typically 2-3% at spine, 3-5% at hip); only changes exceeding LSC are clinically significant

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7. SPECIAL POPULATIONS IN PHYSIOTHERAPY

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8. PHYSIOTHERAPY OUTCOME MEASURES SUMMARY

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Recent Evidence Updates (PubMed, 2024-2025)

• Optimal resistance training parameters for BMD in postmenopausal women (Zhao F et al., 2025, J Orthop Surg Res - Meta-analysis; PMID: 40420105): 3×/week, 60-85% 1RM, ≥6 months duration produces significant BMD gains at femoral neck
• Exercise effects on BMD in postmenopausal women (Hsu HH et al., 2024, PM&R - Systematic review/Meta-analysis; PMID: 39032163): Significant benefit at femoral neck (g=0.583); combined resistance + impact exercise most effective
• Tai Chi for bone health and fall prevention (Zhang Y & Chen H, 2024, J Orthop Surg Res - Meta-analysis; PMID: 39127644): Tai Chi improves both BMD and fall risk in postmenopausal women
• Traditional Chinese exercises and BMD (Hou J et al., 2024 - Network meta-analysis; PMID: 39328990): Multiple modalities (Baduanjin, Wuqinxi, Tai Chi) improve BMD; Baduanjin may be most effective

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Key Clinical Pearls for PG Physiotherapy

1. Exercise must be long-term (≥6 months for BMD, ≥1 year for fracture reduction) - set realistic patient expectations
2. Combine modalities: Resistance + weight-bearing impact + balance training is superior to any single type
3. Avoid spinal flexion in osteoporotic patients - increases vertebral compression fracture risk
4. Falls prevention = fracture prevention - even without BMD change, reducing falls directly reduces fractures
5. FRAX tool should guide intervention intensity - patients with >20% 10-year major fracture risk need both pharmacotherapy and physiotherapy
6. Height loss >4 cm or new back pain = suspect vertebral fracture; refer for VFA/imaging before progressing exercise
7. Whole-body vibration (WBV) may be useful when weight-bearing exercise is not feasible (frail/severe osteoporosis)
8. Aquatic therapy is safe for severe osteoporosis where land-based impact exercise is contraindicated, but does NOT stimulate bone formation (non-weight-bearing medium)

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Becker's Muscular Dystrophy (BMD) - PG Level Physiotherapy: Assessment & Management

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1. DEFINITION

• First described by Becker and Kiener (1955)
• Incidence: ~2.3-5 per 100,000 male births
• BMD accounts for ~15% of all dystrophinopathy variants
• Most BMD patients survive into their 4th-5th decade or longer

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2. GENETICS & MOLECULAR PATHOGENESIS

Gene

• Dystrophin gene (DMD gene) - largest known human gene
• Located at Xp21 locus on the short arm of the X chromosome
• Spans >2 million base pairs (>2 Mb), contains 79 exons
• Encodes dystrophin: a large 427 kDa structural protein

Molecular Basis: The Reading Frame Rule

• In BMD: mutations are "in-frame" - maintain the translational reading frame → truncated but partially functional dystrophin is produced
• In DMD: mutations cause "out-of-frame" deletions → frameshifts → premature stop codon → complete absence of dystrophin
• This reading frame difference explains why BMD is clinically milder
• Common mutations: deletions (60%), duplications, point mutations - clustered in 5' half or central region of the gene

Dystrophin-Glycoprotein Complex (DGC)

Actin (cytoskeleton) → Dystrophin → Dystroglycans + Sarcoglycans → Basement membrane (laminin)

• DGC provides mechanical stability to myofiber membrane during contraction
• Defective/reduced dystrophin → membrane micro-tears during contraction → uncontrolled Ca²⁺ influx → proteolysis, necrosis → fibrosis and fatty replacement
• DGC is also essential in cardiac myocytes → dilated cardiomyopathy

Inheritance

• X-linked recessive: almost exclusively affects males
• Female carriers: ~70% have elevated CK; ~20% have mild weakness; ~8% develop life-threatening cardiomyopathy (manifesting carriers)
• Reproductive fitness of BMD males is ~70% of normal (vs. DMD which is a genetic lethal)
• Only ~10% of BMD cases are new mutations; most are inherited (contrast with DMD where 1/3 are new mutations)

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3. CLINICAL FEATURES

Onset & Natural History

Muscle Involvement

• Proximal muscles predominantly affected, especially lower limbs
• Difficulty climbing stairs, rising from floor, walking up slopes
• Pseudohypertrophy of calves (early and prominent sign) - due to fat/fibrous tissue replacing muscle
• Progressive weakness: hip flexors → hip extensors → shoulder girdle → distal (later)
• Scoliosis is not common (unlike DMD)
• Gowers' sign may be present (though less dramatic than in DMD)
• Toe walking, lumbar lordosis, waddling gait (Trendelenburg gait)

Cardiac Involvement

• Leading cause of death in BMD
• Dilated cardiomyopathy (DCM) - often more severe than skeletal muscle involvement
• Severity of cardiac involvement is independent of skeletal muscle severity
• Some BMD patients present initially with only heart failure (minimal skeletal muscle weakness)
• Right ventricular involvement can be the initial finding → progresses to biventricular DCM
• ECG abnormalities: increased R wave in V1, lateral Q waves
• X-linked dilated cardiomyopathy (XLDCM) is a related allelic condition with predominant cardiac involvement

Respiratory Involvement

• Later and less severe than in DMD, but occurs with disease progression
• Nocturnal hypoventilation → morning headache, fatigue, daytime sleepiness
• Reduced FVC (forced vital capacity); FEV1 decline
• Cough weakness → mucus accumulation → recurrent chest infections
• BiPAP (bilevel positive airway pressure) may be required

Other Features

• Myalgia and cramps (exercise-induced; particularly in early/mild BMD)
• Myoglobinuria (dark urine after exercise) - in ~10-15%
• Intellectual disability: possible but less common than in DMD
• Asymptomatic hyper-CK-emia (can be the only presentation in some)
• Joint contractures: ankle, knee, hip flexors - develop with disease progression
• Pes cavus (in some cases)

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4. INVESTIGATIONS

Serum Creatine Kinase (CK)

• 10-20 times normal (can be highest before clinical weakness is apparent)
• First-line screening test
• Lower CK does not exclude BMD but very high CK at presentation is characteristic

Genetic Testing (Gold Standard)

• Multiplex Ligation-dependent Probe Amplification (MLPA) or Next-Generation Sequencing (NGS) from peripheral blood leukocytes
• Detects deletions, duplications, point mutations in the dystrophin gene
• Muscle biopsy is now rarely required when genetic testing is available

Muscle Biopsy (when genetic testing inconclusive)

• H&E: variation in fiber size, fibre necrosis, regeneration, fibrosis, fatty infiltration
• Immunohistochemistry/Immunofluorescence: reduced, irregular, or patchy dystrophin staining at membrane (absent in DMD; normal bright ring in normal muscle)
• Western blot: reduced dystrophin quantity or abnormal size (truncated protein)

EMG/NCS

• Myopathic pattern: short-duration, polyphasic, low-amplitude motor unit potentials

Cardiac Investigations (mandatory at diagnosis)

• 12-lead ECG: Q waves (lateral leads), tall R in V1, conduction abnormalities
• Echocardiography or cardiac MRI: assess LV/RV function, ejection fraction
• Annual monitoring recommended from diagnosis

Respiratory Function Tests

• Spirometry: FVC, FEV1 (FVC <50% predicted = significant impairment)
• Overnight oximetry / polysomnography for nocturnal hypoventilation
• Peak cough flow (PCF): <160 L/min = inadequate cough

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5. PHYSIOTHERAPY ASSESSMENT

5a. History Taking

• Age of onset of symptoms; initial presenting complaint (calf enlargement, difficulty running, cramps, myoglobinuria)
• Current functional abilities and limitations
• Falls history; frequency, circumstances, injuries
• Exercise intolerance, fatigue pattern
• Cardiac symptoms: dyspnoea, palpitations, orthopnea, ankle swelling
• Respiratory symptoms: morning headache, daytime sleepiness, recurrent chest infections
• Pain: muscle cramps, joint pain
• Medications: current corticosteroids (deflazacort, prednisolone)
• Psychosocial history: school/work participation, home environment, assistive devices

5b. Musculoskeletal Assessment

• Medical Research Council (MRC) Scale (0-5) for individual muscle groups
• Proximal groups first: hip flexors, extensors, abductors; knee extensors/flexors; shoulder abductors, elbow flexors
• Handheld dynamometry (HHD) for quantitative strength testing
• Myometry for serial monitoring

• Goniometric measurement of:
  • Ankle dorsiflexion (first to become limited - heel cord tightness)
  • Hip flexors (Thomas test), knee flexors, ITB (Ober test)
  • Shoulder, elbow, wrist
• Identify heel cord contractures, iliotibial band tightness

• Lumbar lordosis (compensatory for weak hip extensors)
• Scoliosis (less common in BMD than DMD)
• Scapular winging, thoracic kyphosis

5c. Functional Assessment

5d. Gait Analysis

• Waddling gait (Trendelenburg) due to weak hip abductors
• Toe walking (shortened Achilles tendon)
• Lumbar hyperlordosis (compensation for weak glutes)
• Reduced stride length, increased base of support
• Increased lateral trunk sway

5e. Respiratory Assessment

• Chest expansion measurement
• Diaphragmatic breathing assessment
• Peak Cough Flow (PCF) - normal >360 L/min; <160 L/min = ineffective cough
• Pulmonary function tests (FVC - lifespan marker; <50% = significant)
• Signs of nocturnal hypoventilation
• Auscultation: basal crepitations, reduced air entry

5f. Cardiac Assessment (Physiotherapy screening)

• Resting heart rate and blood pressure
• Assessment of dyspnoea at rest and with minimal exertion
• Ankle/sacral oedema
• Exercise tolerance modification (adjust intensity per cardiac status)
• Refer to cardiologist if signs of heart failure: ECG, echo, MRI

5g. Outcome Measures Summary

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6. PHYSIOTHERAPY MANAGEMENT

6a. Goals

1. Maintain/prolong functional ambulation
2. Prevent or delay joint contractures
3. Maintain respiratory function and cough effectiveness
4. Preserve upper limb function
5. Prevent disuse weakness and secondary deconditioning
6. Pain management (cramps, myalgia)
7. Optimise quality of life, independence, and participation

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6b. Exercise Prescription

• Sessions: twice weekly, 30-45 minutes each
• Avoid high-intensity eccentric contractions (most damaging to dystrophic muscle - causes membrane micro-tears)
• Avoid overwork weakness: muscles scoring <4/5 MRC are at risk from excessive loading
• Promote aerobic metabolism over anaerobic; low to moderate intensity
• Submaximal exercise is safe and beneficial; preserves muscle function and prolongs walking
• Rest between sets; avoid fatigue

i. Aerobic/Cardiovascular Exercise

• Swimming/hydrotherapy: preferred - eliminates gravity, protects joints, allows aerobic exercise with minimal eccentric loading
• Stationary cycling (low resistance)
• Walking at comfortable pace
• Intensity: 40-65% peak VO₂ or RPE 11-13 (Borg 6-20 scale)
• Benefits: cardiovascular fitness, respiratory muscle endurance, mood

ii. Strengthening Exercise

• Low-resistance, high-repetition resistive exercise for muscle groups scoring ≥4/5 MRC
• Avoid maximal eccentric loading (e.g., slow lowering phases with heavy weights)
• Functional strengthening: sit-to-stand, step-ups (modified), supported squats
• Progressive resistance training (submaximal): shown to be safe and beneficial in BMD
• Core strengthening: transversus abdominis, paraspinals (protects lumbar lordosis)
• Upper limb: theraband, light weights for shoulder/elbow muscles

iii. Stretching & Flexibility

• Daily passive/active-assisted stretching of:
  • Ankle plantar flexors (Achilles tendon) - most important
  • Hip flexors, ITB, hamstrings
  • Shoulder girdle, elbow flexors
• Standing programmes: prolonged standing (with or without a standing frame) stretches plantar flexors and maintains bone density
• Hold 30-60 seconds; 3-5 repetitions per muscle group

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6c. Contracture Prevention & Management

1. Ankle plantar flexors (most common; leads to toe walking, falls, reduced ambulation)
2. Hip flexors and ITB
3. Hamstrings (knee flexion contractures)

• Daily stretching programme (as above)
• Night splints / Ankle-Foot Orthoses (AFO):
  • Worn during sleep to maintain ankle dorsiflexion
  • Prescribed early, before significant contracture develops
  • Improves foot clearance during gait
• Knee-Ankle-Foot Orthoses (KAFO): for significant knee + ankle contractures; may prolong ambulation
• Serial casting: for established contractures (gentle progressive casting)
• Surgical release (Achilles tendon lengthening ± posterior ankle capsulotomy, ± tibialis posterior transfer) when severe contractures limit ambulation - orthopaedic referral

"The orthopaedic treatment of Becker muscular dystrophy depends on the severity of the disease. In patients with large amounts of functional dystrophin, orthopaedic procedures are frequently not required until after childhood, and in patients with more severe forms, treatment consideration is the same as for Duchenne muscular dystrophy."

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6d. Respiratory Physiotherapy

• Breathing exercises: diaphragmatic breathing, thoracic expansion exercises, pursed lip breathing
• Incentive spirometry: maintains lung volumes, prevents microatelectasis
• Airway clearance techniques:
  • Active Cycle of Breathing Technique (ACBT)
  • Autogenic drainage
  • Percussion and postural drainage (if secretion retention)
  • Mechanical Insufflation-Exsufflation (Cough Assist device): indicated when PCF <270 L/min or FVC <50%; generates assisted cough to clear secretions
• Ventilatory support referral:
  • BiPAP (non-invasive positive pressure ventilation - NIPPV): for nocturnal hypoventilation (SpO₂ <92% overnight, or symptoms)
  • Progresses to full-time NIV in advanced disease
• Annual respiratory review; spirometry 6-12 monthly

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6e. Assistive Devices & Orthotics

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6f. Pain Management

• Cramps and myalgia: common in BMD (more than in DMD)
• Warm-up before exercise; cool-down after
• Heat therapy (warm bath/shower before activity)
• TENS: for pain modulation
• Hydrotherapy (warmth + buoyancy)
• Activity modification: avoid sustained isometric contractions, prolonged walking
• Medication referral: quinine sulfate, magnesium, muscle relaxants (for cramps)

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6g. Cardiac Physiotherapy Considerations

• Exercise is safe in BMD patients with mild-moderate cardiac involvement if medically stable
• Avoid isometric exercise and Valsalva maneuver (raises cardiac afterload)
• Monitor heart rate and SpO₂ during exercise; stop if dyspnoea, chest pain, palpitations
• Keep exercise intensity moderate (not maximal)
• Patients on ACE inhibitors/beta-blockers: may have attenuated heart rate response; RPE-based intensity preferred
• Cardiac transplantation: some BMD patients with severe DCM undergo heart transplantation; post-transplant cardiac rehabilitation required

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6h. Multidisciplinary Team (MDT) Approach

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7. PHARMACOLOGICAL MANAGEMENT (PT Awareness)

Corticosteroids

• Deflazacort / Prednisolone: evidence-based use (primarily in DMD; role in BMD is debated but used in more severe BMD phenotypes)
• Slows muscle deterioration, preserves ambulation
• PT complications to monitor: weight gain, osteoporosis (→ falls risk, fracture risk), Cushing's features, glucose intolerance, behavioural changes

Cardiac Medications

• ACE inhibitors (perindopril, enalapril): early initiation in BMD (even before symptomatic DCM) slows cardiac deterioration
• Beta-blockers: for established DCM
• Aldosterone antagonists (spironolactone/eplerenone): adjunct
• ICD/CRT: in advanced DCM with arrhythmias

Emerging/Investigational Therapies (2024-2026)

• Exon skipping (antisense oligonucleotides): for specific exon deletion subsets
• Gene therapy (adeno-associated viral vectors expressing mini/microdystrophin): clinical trials ongoing
• Myostatin inhibitors (e.g., apitegromab): aimed at preserving muscle mass
• Edgewise Therapeutics' EDG-5506: targets fast skeletal muscle troponin; Phase 2/3 trials in BMD

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8. PHYSIOTHERAPY STAGE-WISE APPROACH

Stage 1 - Ambulatory (Independent Walking)

• Aerobic exercise, submaximal strengthening
• Daily stretching programme (especially Achilles)
• Night AFOs
• Gait training and balance exercises
• Education (energy conservation, activity pacing)
• Annual respiratory review

Stage 2 - Ambulatory with Difficulty (Walking Aids)

• As above + assistive devices (rollators, crutches)
• KAFO assessment to prolong walking
• Increased respiratory physiotherapy
• Hydrotherapy as primary exercise modality
• Referral for contracture surgical review if indicated

Stage 3 - Non-Ambulant (Wheelchair-Dependent)

• Pressure relief and seating assessment
• Postural support (custom wheelchair/seating)
• Upper limb exercise programme (PUL scale monitoring)
• Intensive respiratory physiotherapy + mechanical cough assist
• NIV (BiPAP) initiation
• Prevention of scoliosis (spinal supports)
• Home exercise programme; telerehabilitation (emerging evidence - PMID: 41343252)

Stage 4 - Advanced Disease

• Palliation-focused: comfort, pain management
• NIV optimisation
• Family/caregiver training
• Assistive technology for communication and environment control

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9. BMD vs DMD: Key Physiotherapy Differences

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10. RECENT EVIDENCE

• Leone E et al. (2024), J Neurol Neurosurg Psychiatry (PMID: 38124127) - Systematic review and meta-analysis of conservative non-pharmacological interventions in muscular dystrophies: supports the role of exercise therapy, respiratory physiotherapy, and stretching in maintaining function
• Vinolo-Gil MJ et al. (2026), Disabil Rehabil (PMID: 41343252) - Telerehabilitation is effective for motor and respiratory function in DMD/BMD; useful for remote delivery of home exercise programmes
• French BMD Working Group Guidelines (Magot A et al., J Neurol. 2023): multidisciplinary evaluation; neuropsychological assessment every 2-3 years in children; annual cardiac ECG + echo; respiratory monitoring; recommendations for physiotherapy in prevention and management of musculoskeletal complications

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Key Clinical Pearls for PG Physiotherapy

1. Eccentric exercise is the most damaging to dystrophic muscle - always minimise eccentric loading
2. Overwork weakness is real - muscles below MRC 4/5 should not be worked to fatigue; submaximal exercise is the rule
3. Cardiac involvement can exceed skeletal involvement - always assess cardiac status before exercise prescription in BMD
4. Swimming and hydrotherapy are ideal exercise modalities - aerobic, low-eccentric, joint-protective
5. Start AFOs early (before contracture is established) - better to prevent than treat heel cord contractures
6. PCF <160 L/min = refer for mechanical cough assist device; do not wait for respiratory failure
7. Annual respiratory review is mandatory even in mildly affected patients
8. Telerehabilitation is emerging as a valid delivery model for BMD home exercise programmes
9. Cardioprotection (ACE inhibitors) should begin early in all BMD patients, even before symptomatic DCM
10. BMD is never cured - physiotherapy is lifelong and goals shift from performance-based to quality-of-life and function-preservation as disease progresses

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