Bethlem Myopathy

Overview

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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bethlem-myopathy-109941/overview/69225 • DATE UPDATED: 2019-02-21

References

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 158810: October 4, 2018: https://omim.org/entry/158810 Accessed 21FEB19

Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/

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

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