Autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0009675Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Also known as: CAPN3 autosomal recessive limb-girdle muscular dystrophy, LGMD2A, Leyden-Moebius muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3, autosomal recessive limb-girdle muscular dystrophy type 2A, calpainopathy, limb-girdle muscular dystrophy due to calpain deficiency, limb-girdle muscular dystrophy type 2A
11 clinical trials for this condition and its sub-types.
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Paving the way: new study aims to sharpen tools for LGMD R1 trials
Knowledge-focused OngoingThis 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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New study tracks muscle decline in rare muscular dystrophy
Knowledge-focused OngoingThis study follows 25 people with limb-girdle muscular dystrophy type 2A (LGMD2A), a rare genetic disease that causes progressive muscle weakness. Researchers will measure how muscle strength changes over time and how it affects quality of life. The goal is to better understand t…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 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