Limb Girdle Muscular Dystrophy D1
OMIM number: 603511
Comments closing date: 13/11/2026
LGMD D1 is an autosomal dominant muscular dystrophy caused by mutations in the DNAJB6
gene, characterized by adult-onset, slowly progressive weakness primarily affecting the pelvic girdle with minimal shoulder involvement, and no cardiac or respiratory complications. Age of onset: Typically in adulthood. Muscle weakness: Predominantly in proximal lower limb muscles (pelvic girdle), while shoulder muscles are minimally affected. Gait abnormalities: Early signs may include difficulty climbing stairs, rising from chairs, a waddling gait, or trouble running. Muscle biopsy findings: Show features such as rimmed vacuoles, abnormal nuclei, and fatty replacement of muscle tissue. Creatine kinase (CK) levels: Mildly to moderately elevated, reflecting muscle breakdown. No cardiac or respiratory involvement: Distinguishing it from some other LGMD subtypes
