Duchenne muscular dystrophy
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Synopsis

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 bound 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
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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 muscular 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
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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:04/11/2022
Last Updated:04/11/2022