Calpain-3-related limb-girdle muscular dystrophy R1

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Calpain-3-related limb-girdle muscular dystrophy R1

Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2A | Calpain-3-related LGMD R1 | LGMD type 2A | LGMD2A | Limb-girdle muscular dystrophy due to calpain deficiency | Limb-girdle muscular dystrophy type 2A | Primary calpainopathy

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.

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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Calpain-3-related limb-girdle muscular dystrophy R1?

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Advocacy Organizations

LGMD Awareness Foundation, Inc.

An advocacy organization dedicated to globally raising awareness of the rare neuromuscular diseases known as limb-girdle muscular dystrophy (LGMD). Our focus is to provide curated educational information and resources for the LGMD community - aiming to assist in advancing their genetic diagnosis, care, and treatment. We also coordinate an annual worldwide LGMD Awareness Day on September 30.

Girls Chronically Rock

Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

For a list of clinical trials in this disease area, please click here.