What health problems are part of Bethlem myopathy?
The healthy problems associated with Bethlem myopathy are proximal muscle weakness and contractures. Proximal muscle weakness is weakness of the muscles closer to the torso. The muscle weakness becomes slowly worse over time. Contractures are joint stiffness that results in limited mobility of the joints. The joints typically cannot be completely straightened actively or passively. The contractures may come and go.
Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 158810: October 4, 2018: https://omim.org/entry/158810 Accessed 21FEB19
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Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Accessed 21FEB19
Genetic and Rare Diseases Information Center (GARD), Bethlem myopathy, https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy Accessed 21FEB19
National Organization of Rare Diseases (NORD), Collagen Type VI-Related Disorders, https://rarediseases.org/rare-diseases/collagen-type-vi-related-disorders/ Accessed 21FEB19