Autosomal recessive limb-girdle muscular dystrophy type 2D
MONDO:0011968Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Also known as: Alpha-sarcoglycanopathy, DMDA2, LGMD2D, SGCA autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA, limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, limb-girdle muscular dystrophy type 2D, muscular dystrophy, limb-girdle, autosomal recessive 3
16 clinical trials for this condition and its sub-types.
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Could a short course of steroids calm a dangerous heart rhythm?
Disease control ENROLLING_BY_INVITATIONThis trial tests whether an 8-week course of the immunosuppressive drug prednisone can reduce episodes of ventricular tachycardia (a potentially fatal fast heart rhythm) and improve heart function in people with non-ischemic cardiomyopathy and confirmed heart inflammation. Partic…
Phase: PHASE4 • Sponsor: Roderick Tung • Aim: Disease control
Last updated Jul 29, 2026 00:00 UTC
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Super MRI could spot hidden heart damage
Diagnosis OngoingThis study tests whether a new, more powerful 7 Tesla MRI can better detect scarring and swelling in the heart muscle of people with cardiomyopathy. Researchers will scan 13 adults aged 20-70 to see if the higher-resolution images improve diagnosis. The goal is to see if this adv…
Sponsor: University of Pennsylvania • Aim: Diagnosis
Last updated Jun 27, 2026 09:02 UTC
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Scientists watch LGMD progress in 205 patients over years
Knowledge-focused OngoingThis study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …
Sponsor: Sarepta Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC