Emery–Dreifuss muscular dystrophy
Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement (skeletal muscles), causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden cardiac death. It is rare, affecting 0.39 per 100,000 (1 per 250,000) people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.
| Emery–Dreifuss muscular dystrophy | |
|---|---|
| Diagram of the muscles preferentially weakened and the locations of contraction development in EDMD2, due to LMNA mutation. | |
| Specialty | Neurology, neuromuscular medicine |
| Symptoms | Joint contractures, muscle weakness, heart issues |
| Complications | Heart failure |
| Usual onset | First or second decade |
| Duration | Lifelong |
| Causes | Mutation in one of several gene, including EMD LMNA genes |
| Diagnostic method | Genetic testing. Adjunctive: creatine kinase, EMG, and muscle MRI |
| Treatment | Physical therapy, orthopedic surgery, pacemaker |
| Frequency | 0.39 per 100,000 |
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