Emery Dreifuss muscular dystrophy (EDMD): management

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

Electromyogram (EMG)

Muscle biopsy

Cardiac investigations

Other investigations

Physical therapy

Cardiac treatments

Surgical treatments

Other management

References

1. Pillers DA, Von Bergen NH. Emery-Dreifuss muscular dystrophy: a test case for precision medicine. Appl Clin Genet 2016; 9:27-32.
2. 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.
3. 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).
4. 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.
5. Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle Nerve 2020; 61:436-448.
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Related checklists

• Emery Dreifuss muscular dystrophy (EDMD): genetics
• Emery Dreifuss muscular dystrophy (EDMD): clinical features