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Case 45 - Emery–Dreifuss Muscular Dystrophy (EDMD)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 24-year-old man is the youngest of five children and of Turkish origin, who since the age of five years had noticed that he was not able to fully extend his arms. Furthermore, his Achilles tendons were taut. His previous history was unremarkable. An older brother had similar symptoms. Both had no cardiac symptoms. His parents were not affected.

Keywords

muscle weaknessscapuloperonealcontracturesrigid spineheart involvementX-linked recessiveautosomal dominantEmery–Dreifus muscular dystrophyEDMD
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 198 - 199
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Bonne, G, Leturcq, F, Ben, Yaou, R. Emery-Dreifuss muscular dystrophy. 2004 Sep 29 [updated 2019 Aug 15]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301609.Google Scholar
Heller, SA, Shih, R, Kalra, R, Kang, PB. Emery-Dreifuss muscular dystrophy. Muscle Nerve 2020;61(4):436–448. doi: 10.1002/mus.26782. Epub 2019 Dec 28. PMID: 31840275; PMCID: PMC7154529.CrossRefGoogle ScholarPubMed

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