Emery Dreifuss muscular dystrophy (EDMD): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Emery Dreifuss muscular dystrophy (EDMD): management. This shows diffuse fatty replacement and atrophy. Fully referenced neurology checklist.
Muscle magnetic resonance imaging (MRI): features
- This shows diffuse fatty replacement and atrophy
- There are also early oedema-like changes on STIR sequences
Muscle magnetic resonance imaging (MRI): worst affected muscles
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Electromyogram (EMG)
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Muscle biopsy
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Cardiac investigations
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Other investigations
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Physical therapy
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Cardiac treatments
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Surgical treatments
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Other management
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References
- Pillers DA, Von Bergen NH. Emery-Dreifuss muscular dystrophy: a test case for precision medicine. Appl Clin Genet 2016; 9:27-32.
- Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY. Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. Eur Heart J Case Rep 2023; 7:ytad013.
- Panicucci C, Casalini S, Traverso M, et al. Early muscle MRI Findings in a pediatric case of Emery-Dreifuss muscular dystrophy type 1. Neuropediatrics 2023 (Online ahead of print).
- Pinto MJ, Fromes Y, Ackermann-Bonan I, et al. Muscle MRI as a diagnostic challenge in Emery-Dreifuss muscular dystrophy. J Neuromuscul Dis 2022; 9:649-654.
- Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle Nerve 2020; 61:436-448.
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