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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Calpain-3-related limb-girdle muscular dystrophy R1?
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Advocacy Organizations
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.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.
Moonshots for Unicorns
Curing single-gene disorders
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.