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 2026
Newly diagnosed with
Bethlem muscular dystrophy?
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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.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Girls Chronically Rock
Girls Chronically Rock empowers and inspires people in the disability community through fashion, storytelling, and advocacy. Our mission is to create visibility, spark confidence, and promote inclusion by combining style with purpose.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.