Autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0009676Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Also known as: DYSF autosomal recessive limb-girdle muscular dystrophy, LGMD2B, LGMD3, autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF, limb-girdle muscular dystrophy due to dysferlin deficiency, limb-girdle muscular dystrophy type 2B, muscular dystrophy, limb-girdle, autosomal recessive 2, limb-girdle muscular dystrophy, type 2B
42 clinical trials for this condition and its sub-types.
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Experimental gene therapy for rare muscle disease tested in just 2 people
Disease control TerminatedThis was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…
Phase: PHASE1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
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Scientists gather leftover surgical tissue to unlock secrets of bone disease
Knowledge-focused TerminatedThis study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC