National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Collagen VI related muscular dystrophy



Collagen type VI-related disorders are caused by alterations (mutations) of collagen genes (COL6A1, COL6A2, or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy) and genetic testing that shows mutations in the collagen VI genes. The treatment depends on the signs and symptoms that are present and may include physiotherapy regarding stretching exercises, splinting, and mobility aids and orthopedic surgeries.[1]
Last updated: 7/25/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Collagen VI related muscular dystrophy . This website is maintained by the National Library of Medicine.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  1. Lampe AK, Flanigan KM, Bushby KM & Hicks D. Collagen Type VI-Related Disorders. GeneReviews. August 9, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1503/. Accessed 7/25/2015.