autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
Findings
No curated finding names autosomal dominant limb-girdle muscular dystrophy type 1E (DES) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018098), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
- Also called
- LGMD1E