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Duchenne Muscular Dystrophy G12.21 335.21


synonyms: Duchenne muscular dystrophy, DMD

Duchenne Muscular Dystrophy ICD-10

Duchenne Muscular Dystrophy ICD-9

  • 335.21 Progressive Muscular atrophy Duchenne-Aran muscular atrophy

Duchenne Muscular Dystrophy Etiology / Epidemiology / Natural History

  • X-linked genetic disorder
  • 1/3,500 male births
  • Abnormal dystrophin resulting in adsence of functional dystrophin. Dystrophin is structural protein in skeletal and cardiac muscle. Links intracellular actin framework to extracellular matrix.
  • Confined to wheelchair by age 10. Life expactancy limited to 2nd/3rd decade by respiratory or cardiac complications.
  • >90%  will develop scoliosis.

Duchenne Muscular Dystrophy Anatomy

Duchenne Muscular Dystrophy Clinical Evaluation

  • Pseudohypertrophy of calf muslces, leg weakness, progressive scoliosis, dilated cardiomyopathy starting at age 3-5
  • Family history

Duchenne Muscular Dystrophy Xray / Diagnositc Tests

  • Diagnosis confirmed with muscle biospy. Demonstrates lack of dystrophin with immnuohistochemical staining.

Duchenne Muscular Dystrophy Classification / Treatment

  • Posterior spinal fusion is indicated for patients with scoliosis once they become non-ambulatory. Fusion improves quality of life and sitting posture. Timing of surgery is based on the patient's pulmonary and cardiac status and not the severity of scoliosis.  Pulmonary function testing >35% or predicted value is the absolute threshold for surgery (generally can wean off the ventilator).

Duchenne Muscular Dystrophy Associated Injuries / Differential Diagnosis

Duchenne Muscular Dystrophy Complications

Duchenne Muscular Dystrophy Follow-up Care

Duchenne Muscular Dystrophy Review References

  • Sussman M. Duchenne muscular dystrophy. J Am Acad Orthop Surg. 2002 Mar-Apr;10(2):138-51.°


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