Bethlem muscular dystrophy

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Bethlem muscular dystrophy

Synonyms: Bethlem myopathy | LGMD D5 collagen 6-related dystrophy | LGMD D5 collagen VI-related dystrophy | LGMD R22 collagen 6-related dystrophy | LGMD R22 collagen VI-related dystrophy | Mild form of COL6-related dystrophy | Mild form of collagen VI-related dystrophy

A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness joint contractures and potential respiratory insufficiency in adulthood.

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 May 2024

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Bethlem muscular dystrophy?

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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.

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

Clinical Trials

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