Duchenne Muscular Dystrophy
| ICD-9 |
Classification / Treatment |
| Etiology / Epidemiology / Natural History |
Associated Injuries / Differential Diagnosis |
| Anatomy |
Complications |
| Clinical Evaluation |
Follow-up Care |
| Xray / Diagnositc Tests |
Review References |
synonyms: Duchenne muscular dystrophy, DMD
ICD-9
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.
Anatomy
Clinical Evaluation
- Pseudohypertrophy of calf muslces, leg weakness, progressive scoliosis, dilated cardiomyopathy starting at age 3-5
- Family history
Xray / Diagnositc Tests
- Diagnosis confirmed with muscle biospy. Demonstrates lack of dystrophin with immnuohistochemical staining.
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Classification / Treatment
- Posterior spinal fusion is indicated for patients with scoliosis once they become non-ambulatory. Fusion improves quality of life and sitting posture. Surgery if vital capacity is >35%.
Associated Injuries / Differential Diagnosis
Complications
Follow-up Care
Review References
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