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Duchenne muscular dystrophy
Other Resources UpToDate PubMed

Duchenne muscular dystrophy

Contributors: Jamie Adams MD
Other Resources UpToDate PubMed

Synopsis

Duchenne muscular dystrophy is an X-linked recessive disorder caused by a mutation in the dystrophin gene located on the X chromosome. The mutation leads to absent dystrophin protein, which is important in muscle cell structural stability. Males are affected, although a minority of female carriers are affected.

Symptoms are detected in infancy or early childhood and include progressive proximal muscle weakness and atrophy of the legs and pelvis, which often leads to difficulty walking or climbing stairs, pseudohypertrophy of the calves, enlarged tongue, fatigue, and behavioral or learning disorders. Later, there can be arm and neck weakness, scoliosis, contractures, cardiomyopathy, dysphagia, and respiratory failure. Most patients are wheelchair dependent by age 12, and the average age of death is 25.

Codes

ICD10CM:
G71.01 – Duchenne or Becker muscular dystrophy

SNOMEDCT:
76670001 – Duchenne muscular dystrophy

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Becker muscular dystrophy
  • Limb-girdle muscular dystrophy
  • Facioscapulohumeral dystrophy
  • Emery-Dreifuss muscular dystrophy
  • Myotonic dystrophy
  • Congenital muscular dystrophy
  • Distal muscular dystrophy (eg, Miyoshi myopathy)
  • Congenital, metabolic, or Drug-induced myopathies
  • Glycogen storage disease type 2 (Pompe disease)
  • Spinal muscular atrophy
  • Myasthenia gravis
  • Lambert-Eaton myasthenic syndrome
  • Dermatomyositis
  • Polymyositis

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/23/2017
Last Updated:08/06/2023
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Duchenne muscular dystrophy
A medical illustration showing key findings of Duchenne muscular dystrophy (Early Disease) : Extremities weakness, Leg pain, Lumbar lordosis, Proximal muscle weakness, Creatine kinase elevated, Cognitive impairment
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