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Neurology›Condition·Updated Jun 28, 2026·v1

Muscular Dystrophy

Muscular dystrophy is a group of inherited myopathies with progressive muscle weakness. Duchenne MD is the most common and severe. Diagnosis relies on genetic testing. Management includes corticosteroids, gene therapy, cardioprotection, respiratory support, and rehabilitation. Prognosis has improved dramatically with multidisciplinary care.

High Evidence230 references·12,678 words·51 min read·v1
Muscular DystrophyDuchenne Muscular DystrophyBecker Muscular DystrophyFacioscapulohumeral Muscular DystrophyMyotonic DystrophyLimb-Girdle Muscular DystrophyGene TherapyCorticosteroidsNeurology

Quick Reference

RxDrug of choiceCorticosteroids (prednisone 0.75 mg/kg/day or deflazacort 0.9 mg/kg/day) for Duchenne muscular dystrophy
AltAlternativesVamorolone 6 mg/kg/day, delandistrogene moxeparvovec gene therapy, eteplirsen for exon 51 skipping
⊘AvoidSuccinylcholine (risk of hyperkalemic arrest), non-dihydropyridine CCBs (exacerbate HF), benzodiazepines in respiratory weakness
DxTest of choiceMolecular genetic testing (NGS panel or targeted gene sequencing)
ScKey scoreNorth Star Ambulatory Assessment (NSAA) for DMD; 6-minute walk distance (6MWD); FSHD Clinical Score
→When to referNeuromuscular specialist, cardiology, pulmonology, genetics, physical therapy, occupational therapy
Early diagnosis and multidisciplinary care with corticosteroids, cardioprotection, and respiratory support prolong survival in DMD from 19 to 30+ years; gene therapy offers disease modification for eligible patients.
Muscular dystrophy (MD) is a group of inherited myopathies causing progressive muscle weakness and wasting. Duchenne MD is the most common childhood form, with an incidence of 1 in 3,500-5,000 male births. Early diagnosis through genetic testing and initiation of corticosteroids prolongs ambulation and survival. Multidisciplinary care including cardiac and respiratory surveillance is essential. Gene therapy and exon skipping offer disease-modifying options for eligible patients.

Overview and Recommendations

Background

  • •Muscular dystrophy (MD) encompasses a heterogeneous group of inherited myopathies characterized by progressive muscle weakness and wasting due to defective structural or membrane-associated proteins in skeletal muscle. The term unifies disorders with a dystrophic muscle biopsy, fiber necrosis, regeneration, and fibrofatty replacement, but distinguishes by genetic etiology, inheritance pattern, age at onset, and muscle involvement.
  • •Duchenne muscular dystrophy (DMD) is the most common and severe childhood form, affecting approximately 1 in 3,500 to 5,000 live male births, with an untreated median survival of 19 years. Modern care with corticosteroids, noninvasive ventilation, and cardiac management has extended median survival to 30+ years.
  • •The classification of MD has evolved from clinical phenotype to a genetic framework: dystrophinopathies (DMD, BMD), facioscapulohumeral MD (FSHD), myotonic dystrophy (DM1/DM2), limb-girdle MD (LGMD), congenital MD (CMD), Emery-Dreifuss MD, and oculopharyngeal MD. Each subtype has a distinct molecular defect, DGC disruption, DUX4 derepression, RNA toxicity, or nuclear envelope dysfunction.
  • •The central pathophysiology involves disruption of the dystrophin-associated glycoprotein complex (DGC), which links the intracellular cytoskeleton to the extracellular matrix, rendering the sarcolemma vulnerable to contraction-induced micro-tears. This triggers calcium influx, protease activation, mitochondrial dysfunction, and fibrofatty replacement.
  • •Prognostic stakes are high: untreated DMD leads to loss of ambulation by age 9.5 years and death from cardiorespiratory failure in the second decade. However, the four pillars of modern care, corticosteroids, cardioprotection, respiratory support, and rehabilitation, have transformed the natural history, with treated patients now surviving into their fourth decade.

Evaluation

  • •Suspect muscular dystrophy in any patient with progressive, symmetric proximal weakness, a waddling gait, frequent falls, or difficulty rising from the floor (Gowers sign). Calf pseudohypertrophy is a classic sign in DMD and BMD.
  • •Ask about age at onset: DMD presents before age 5, BMD in adolescence, FSHD in adolescence to young adulthood, and LGMD variably from childhood to adulthood. Inquire about family history (X-linked, autosomal dominant/recessive), myotonia (suggests DM1), and cardiac or respiratory symptoms.
  • •Examine for pattern of weakness: proximal > distal in DMD/BMD/LGMD; distal > proximal in DM1; asymmetric facial and scapular fixator weakness in FSHD. Check for Beevor sign (upward umbilicus migration during neck flexion) which is pathognomonic for FSHD.
  • •Assess reflexes: normal or reduced in proportion to weakness; never hyperreflexic. Sensory examination is normal. Evaluate for contractures (Achilles, hamstrings, elbows) and scoliosis.
  • •Order serum creatine kinase (CK): markedly elevated (50-100× normal) in DMD, moderately elevated (10-50×) in BMD and LGMD, normal to mildly elevated in FSHD and DM1. A normal CK in the setting of weakness suggests alternative diagnoses.
  • •Gold-standard diagnostic test is molecular genetic testing: targeted next-generation sequencing panel or whole-exome sequencing. For DMD/BMD, sequence the DMD gene (79 exons) for deletions, duplications, and point mutations. For FSHD1, Southern blot for D4Z4 repeat contraction.
  • •Electromyography (EMG) shows small, short-duration, polyphasic motor unit potentials with early recruitment, myopathic pattern. Myotonic discharges are pathognomonic for myotonic dystrophy.
  • •Muscle biopsy is reserved for cases where genetic testing is negative or variants of uncertain significance are found. Immunohistochemistry for dystrophin, sarcoglycans, laminin α2, collagen VI, and α-dystroglycan can guide targeted gene sequencing.
  • •Muscle MRI of pelvis, thighs, and lower legs provides a non-invasive roadmap: selective involvement of glutei, adductors, quadriceps in DMD; asymmetric involvement in FSHD; central shadow sign in collagen VI-related myopathies.
  • •Cardiac evaluation: echocardiogram or cardiac MRI at diagnosis and annually in DMD/BMD/EDMD/DM1. Look for dilated cardiomyopathy and arrhythmias.
  • •Respiratory assessment: forced vital capacity (FVC) every 6 months in DMD starting at age 5-6. Peak cough flow <160 L/min indicates need for cough assist.
  • •Consider brain MRI in congenital MD for cobblestone lissencephaly or white matter abnormalities. EEG is indicated only in LAMA2-related CMD with occipital epilepsy.
  • •Diagnostic criteria are based on genetic confirmation; clinical criteria (e.g., for DMD: onset before 5, proximal weakness, CK >10× normal, Gowers sign) support but do not replace genetic testing.

Management

  • •Initiate corticosteroids in DMD as soon as diagnosis is confirmed, ideally before age 5. Use prednisone 0.75 mg/kg/day or deflazacort 0.9 mg/kg/day. Vamorolone 6 mg/kg/day is an alternative with fewer side effects on growth and bone.
  • •For DMD patients with amenable mutations, consider exon-skipping therapy: eteplirsen 30 mg/kg IV weekly for exon 51, viltolarsen 80 mg/kg IV weekly for exon 53, casimersen 30 mg/kg IV weekly for exon 45.
  • •Gene therapy with delandistrogene moxeparvovec (1.33×10^14 vg/kg single IV infusion) is approved for ambulatory boys aged 4 to <8 years with DMD. Requires pre-treatment immunosuppression with prednisone 1 mg/kg/day for 30 days before and 60 days after.
  • •Start cardioprotection with an ACE inhibitor (e.g., perindopril 2.5-5 mg/day) at age 10 or at first sign of myocardial damage. Add eplerenone 25 mg/day (starting every other day for 1 month, then daily) if late gadolinium enhancement on cardiac MRI.
  • •Monitor respiratory function: initiate noninvasive ventilation (NIV) when FVC <50% predicted or symptoms of nocturnal hypoventilation appear. Use bi-level positive airway pressure (BiPAP) with IPAP 10-12 cmH2O, EPAP 4-6 cmH2O. Provide mechanical insufflation-exsufflation (cough assist) if peak cough flow <160 L/min.
  • •For acute respiratory failure, start NIV immediately if SpO2 <92% or PaCO2 >45 mmHg. If NIV fails, proceed to invasive mechanical ventilation. Avoid succinylcholine due to risk of hyperkalemic cardiac arrest.
  • •For rhabdomyolysis (CK >10,000 U/L), administer IV normal saline 20 mL/kg bolus then 1.5-2× maintenance to achieve urine output ≥2 mL/kg/hour. Do not give bicarbonate unless pH <7.2.
  • •For DMD-specific ketoacidosis (pH <7.3 with ketones and low glucose), start IV 10% dextrose at 100-150 mL/hour. Add insulin only if glucose >200 mg/dL.
  • •Manage pain: acetaminophen 500-1000 mg q6h or ibuprofen 400-600 mg q6h for musculoskeletal pain. Gabapentin 300-900 mg TID for neuropathic pain. Reserve opioids for severe acute pain with monitoring for respiratory depression.
  • •Provide DVT prophylaxis in hospitalized patients with limited mobility: enoxaparin 40 mg SC daily or unfractionated heparin 5000 units SC BID.
  • •Rehabilitation: daily stretching of heel cords, hamstrings, hip flexors; ankle-foot orthoses for foot drop; standing programs to delay scoliosis. Aerobic exercise at 65% VO2max for 30 minutes, 5 times per week, improves fitness in BMD.
  • •Avoid non-dihydropyridine calcium channel blockers (diltiazem, verapamil) as they exacerbate heart failure. Avoid benzodiazepines in patients with respiratory weakness.
  • •Refer to neuromuscular specialist, cardiology, pulmonology, genetics, physical therapy, occupational therapy, and speech therapy as needed.
  • •Discharge criteria after acute crisis: FVC >60% predicted, stable on home NIV if needed, no new arrhythmia, CK <5000 U/L, tolerating oral nutrition with speech therapy clearance.
  • •For FSHD, losmapimod 15 mg PO BID may slow disease progression but is not yet approved. Cognitive behavioral therapy and aerobic exercise reduce fatigue in FSHD and DM1.
  • •For myotonic dystrophy, treat myotonia with mexiletine 150-200 mg TID if symptomatic. Monitor for cardiac conduction defects and cataracts.
  • •For limb-girdle MD, management is supportive with physical therapy, orthoses, and surveillance for cardiac and respiratory involvement. No disease-modifying therapy is approved.
  • •For congenital MD, focus on contracture management, respiratory support, and seizure control in LAMA2-related CMD.

Board Review — High Yield

  • •Gowers sign, Using hands to 'walk' up thighs to stand is pathognomonic for Duchenne muscular dystrophy.
  • •Beevor sign, Upward migration of umbilicus during neck flexion is specific for facioscapulohumeral muscular dystrophy.
  • •Dystrophin reading-frame rule, Out-of-frame DMD mutations cause Duchenne; in-frame cause Becker.
  • •DUX4 derepression, In FSHD, contraction of D4Z4 repeats or SMCHD1 mutation leads to DUX4 expression and p53-dependent apoptosis.
  • •Myotonic discharges on EMG, Waxing-and-waning potentials are pathognomonic for myotonic dystrophy.
  • •Cobblestone lissencephaly, Seen in severe dystroglycanopathies (Walker-Warburg syndrome) due to glia limitans breach.
  • •FVC <50% predicted, Threshold for initiating noninvasive ventilation in DMD.
  • •Delandistrogene moxeparvovec, First gene therapy approved for DMD, delivers micro-dystrophin via AAVrh74 vector.

Deep Dive — Evidence Details

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