Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms.
- Authors
- Type
- Published Article
- Journal
- Cardiology in the Young
- Publisher
- Cambridge University Press
- Publication Date
- Nov 25, 2021
- Pages
- 1–3
- Identifiers
- DOI: 10.1017/S1047951121004674
- PMID: 34819192
- Source
- Medline
- Keywords
- Language
- English
- License
- Unknown
Abstract
Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl. Despite normal muscle and myocardial biopsies, genetic testing revealed LMNA mutations. As Emery-Dreifuss muscular dystrophy is associated with minimal skeletal muscle weakness, cardiac complications can facilitate its diagnosis.
