Emery Dreifuss muscular dystrophy (EDMD): clinical features
Evidence-based neurology checklist on emery dreifuss muscular dystrophy (edmd): clinical features: Humeroperoneal muscle weakness and atrophy Biceps Triceps Anterior tibial Peroneal A scapulo-humero-pelvo-peroneal pattern develops later Contractures Muscle hypertrophy Cardiac features Female…
Humeroperoneal muscle weakness and atrophy
- Biceps
- Triceps
- Anterior tibial
- Peroneal
- A scapulo-humero-pelvo-peroneal pattern develops later
Contractures
Muscle hypertrophy
Cardiac features
Female carriers
Differential diagnosis
Outcome
References
- Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989; 26:637-641.
- Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Genet 2002; 10:157-161.
- Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p556.
- Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle Nerve 2020; 61:436-448.
- Sanna T, Russo AD, Toniolo D, et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003; 24:2227-2236.
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