Emery–Dreifuss muscular dystrophy
| 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[1] |
| Complications | Heart failure |
| Usual onset | First or second decade |
| Duration | Lifelong |
| Causes | Mutation in one of several gene, including EMD LMNA genes[2] |
| Diagnostic method | Genetic testing. Adjunctive: creatine kinase, EMG, and muscle MRI[3] |
| Treatment | Physical therapy, orthopedic surgery, pacemaker[1] |
| Frequency | 0.39 per 100,000[3] |
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.[3][4] It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.[5][6]
- ^ a b Cite error: The named reference
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pmid19021551was invoked but never defined (see the help page). - ^ a b c Cite error: The named reference
Heller2020Reviewwas invoked but never defined (see the help page). - ^ Bonne, Gisèle; Leturcq, France; Ben Yaou, Rabah (1993). "Emery-Dreifuss Muscular Dystrophy". GeneReviews®. University of Washington, Seattle. PMID 20301609. Archived from the original on 1 December 2020. Retrieved 12 March 2022.
- ^ "Emery-Dreifuss muscular dystrophy". Archived from the original on 2017-03-12. Retrieved 2016-05-16.
- ^ Emery AE, Dreifuss FE (1966). "Unusual type of benign x-linked muscular dystrophy". J. Neurol. Neurosurg. Psychiatry. 29 (4): 338–42. doi:10.1136/jnnp.29.4.338. PMC 1064196. PMID 5969090.