Scleroatonic muscular dystrophy [Supplementary Concept]
A genetically heterogeneous hereditary form of muscular dystrophy that is characterized by multiple CONTRACTURES; HYPOTONIA; HIP DISLOCATION and TORTICOLLIS beginning in infancy. RESPIRATORY INSUFFICIENCY and PNEUMONIA are also common. Mutations in the COL6A1, COL6A2, and COL6A3 genes have been identified. OMIM: 254090
Date introduced: August 25, 2010
MeSH Unique ID: C537521
Heading Mapped to:
Entry Terms:
- Ullrich disease
- Ullrich scleroatonic muscular dystrophy
- Ullrich congenital muscular dystrophy
- Late onset scleroatonic familial myopathy
- Muscular Dystrophy, Scleroatonic
- Ullrich congenital muscular dystrophy 1