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Emery-Dreifuss muscular dystrophy
Pathology:
- muscle weakness & muscle atrophy without involvement of the nervous system
Genetics:
- X-linked form associated with defects in emerin gene
- autosomal dominant (type 2) & autosomal recessive (type 3) forms associated with defects in LMNA gene
- associated with defects in SYNE1 (type 4)
- associated with defects in SYNE2 (type 5)
Clinical manifestations:
- slowly progressive muscle wasting & muscle weakness
- affected children (X-linked form) survive into adulthood
- proximal muscle weakness > distal weakness [5]
- early contractures of the elbows, Achilles tendons & spine
- cardiomyopathy associated with cardiac conduction defects (autosomal dominant form)
- onset: 17-42 years of age (autosomal dominant form)
General
muscular dystrophy
Database Correlations
OMIM correlations
MORBIDMAP 150330
References
- OMIM :accession 310300
- OMIM :accession 181350
- OMIM :accession 150330
- OMIM :accession 604929
- Medical Knowledge Self Assessment Program (MKSAP) 15, 17
American College of Physicians, Philadelphia 2009, 2015