autosomal dominant limb-girdle muscular dystrophy type 1H
Findings
No curated finding names autosomal dominant limb-girdle muscular dystrophy type 1H 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 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.
Definition from the Mondo Disease Ontology (MONDO:0013297), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: autosomal dominant limb-girdle muscular dystrophy type 1H
- Also called
- LGMD1H