Bethlem myopathy [Supplementary Concept]
A hereditary myopathy characterized by skeletal muscle weakness and contractures of the finger, wrist, and ankle joints. Onset can be at any age; affected children may be delayed in reaching developmental milestones and most patients over age 50 have difficulty walking without assistance. Skin abnormalities such as follicular hyperkeratosis may occur in some cases. Mutations in the COL6A1, COL6A2, and COL6A3 genes have been identified. OMIM: 158810
Date introduced: August 25, 2010
MeSH Unique ID: C535436
Heading Mapped to:
Entry Terms:
- Myopathy, benign congenital, with contractures
- Muscular dystrophy, benign congenital
- Benign Congenital Muscular Dystrophy
- Benign Congenital Myopathy with Contractures