Emery-Dreiffus muscular dystrophy

Last revised by David Luong on 27 Jul 2021

Citation, DOI, disclosures and article data

Citation:

Weerakkody Y, Luong D, Emery-Dreiffus muscular dystrophy. Reference article, Radiopaedia.org (Accessed on 24 Apr 2024) https://doi.org/10.53347/rID-68468

DOI:

https://doi.org/10.53347/rID-68468

Permalink:

https://radiopaedia.org/articles/68468

rID:

68468

Article created:

2 Jun 2019, Yuranga Weerakkody ◉

Disclosures:

At the time the article was created Yuranga Weerakkody had no recorded disclosures.

View Yuranga Weerakkody's current disclosures

Last revised:

27 Jul 2021, David Luong ◉

Disclosures:

At the time the article was last revised David Luong had no recorded disclosures.

View David Luong's current disclosures

Revisions:

2 times, by 2 contributors - see full revision history and disclosures

Systems:

Central Nervous System, Musculoskeletal

Synonyms:

Emery-Dreifuss muscular dystrophy (EDMD)
Emery Dreiffus muscular dystrophy

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities.

Clinical course

Weakness is slowly progressive, but there is a broad spectrum of clinical severity.

Pathology

X-linked (EDMD1) and autosomal dominant (EDMD2) forms of the disease are noted which appears clinically similar and are caused by defects of the nuclear membrane proteins named emerin and lamins A/C, respectively.