Contacts
Understanding Collagen VI-Related Myopathy
Collagen VI-related myopathy encompasses a group of genetic disorders affecting muscle function. These conditions, Bethlem Myopathy, Ullrich Muscular Dystrophy, intermediate forms and Myosclerosis, can significantly impact individuals' mobility and quality of life.
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It's a Patient Journey!
Explore key research on collagen VI-related myopathy, including essential papers and studies on our pathogenesis, diagnosis, and treatment studies. Access citations and links to original publications for more information.
The Collagen VI: common misconceptions
There are 28 different types of collagen in the human body, each with a specific role.
Genetic Basis and Pathogenesis
Mutations in the COL6A1, COL6A2, and COL6A3 genes, encoding the alpha chains of collagen 6.
Diagnosis and Clinical Features
Clinical diagnosis relies on muscle biopsies and genetic testing.
symptoms management
Current treatment focuses on managing symptoms and improving quality of life.
patients education and what really we need!
Pay attention to health lifestyle and… be active!
Physician EDUCATION
Updated specific guidelines are important for healthcare professionals!
Ongoing Research: the Future of Treatment
  • Gene Therapy
    Gene therapy aims to replace or correct the faulty gene responsible for collagen VI deficiency.
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  • Pharmacological Treatments
    Drugs act on specific biological pathways to reduce symptoms or halt disease progression.
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  • stem cells therapy
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Resources: Connecting with Support
Although precise incidence data are lacking, the prevalence of Ullrich CMD is 0.13 cases per 100,000 of the population, and that of Bethlem myopathy is 0.77 cases per 100,000. 72,900 cases globally estimated.
Col6-Related Myopathy Support Groups
Connect with others who understand your experience and offer real support.
Medical Organizations and Research
Learn about global entities that support and fund ongoing research and clinical trials.
Online literature and Information
Access articles, forums, and other online resources providing information and advice.
the 1^ world collagen 6 myopathy day
Read the the summary of the virtual congress held in 6th of june 2025!