autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
http://purl.obolibrary.org/obo/MONDO_0018098
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. [ Orphanet:34517 ]
Term info
- Orphanet:34517 (MONDO:equivalentObsolete)
- GARD:0012529 (MONDO:equivalentTo)
- UMLS:C3148763 (Orphanet:34517)
- DOID:0110305 (MONDO:relatedTo)
ordo_disease
Terminology notes: See comments for LGMD1D
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.
http://linkedlifedata.com/resource/umls/id/C3148763
LGMD1E
limb-girdle muscular dystrophy type 1E
MONDO:0018098