Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

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Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2E | Beta-sarcoglycan-related LGMD R4 | Beta-sarcoglycanopathy | LGMD due to beta-sarcoglycan deficiency | LGMD type 2E | LGMD2E | Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency | Limb-girdle muscular dystrophy type 2E

A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy cardiomyopathy respiratory impairment tendon contractures scoliosis and exercise-induced myoglobinuria may be observed.

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: // Data version October 2023.

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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

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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.