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
- Becker's Muscular Dystrophy
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.°