About Bethlem Myopathy
Bethlem Myopathy is the milder end of the COL6-related myopathy spectrum, caused by heterozygous mutations in one of the three collagen VI genes (COL6A1, COL6A2, or COL6A3). It presents with proximal muscle weakness, joint hyperlaxity in infancy transitioning to contractures in older patients, and characteristic skin changes including follicular hyperkeratosis and keloid scarring. The condition is slowly progressive but most patients remain ambulatory throughout life.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Bethlem Myopathy trials.
COL6-related trials often enrol both Bethlem and Ullrich patients on a spectrum basis — confirm whether your trial distinguishes between subtypes or uses COL6 mutation status alone
Skin biopsy for collagen VI immunofluorescence and fibroblast culture studies may be requested as biomarker endpoints alongside genetic confirmation
Six-minute walk test and hand-held dynamometry are standard endpoints; formal physiotherapy assessment prior to application is advisable
Patient Resources
Natural History Registry
CMDIR (Congenital Muscular Dystrophy International Registry)
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