Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

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Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2C | Gamma-sarcoglycan-related LGMD R5 | Gamma-sarcoglycanopathy | LGMD due to gamma-sarcoglycan deficiency | LGMD type 2C | LGMD2C | Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency | Limb-girdle muscular dystrophy type 2C

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy diaphragmatic weakness and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

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 June 2024

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign 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 to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

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

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.

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.

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Clinical Trials

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