Bethlem Myopathy

Symptoms

What are the signs and symptoms of Bethlem myopathy?

Progressive muscle weakness and contractures are the signs and symptoms of Bethlem myopathy. The muscle weakness in Bethlem myopathy is typically proximal. That means that the muscle weakness is in the torso and the muscles closer to the torso. Contractures are when the joints are stiff and have limited mobility. People with Bethlem myopathy most often have contractures of the long finger, elbows, and ankles. These symptoms slowly become worse over time and people over 50 usually require assistance to get around outdoors. Symptoms may progress so slowly that some adults are not even aware of their muscle weakness

Rarely, people with Bethlem myopathy have breathing problems and require assistance with breathing at night. They may also have more frequent chest infections. If these symptoms are present, they are typically only seen later in life.

People with Bethlem myopathy do not have any involvement of the heart muscles and they have normal intelligence. Affected individuals may have some differences in their skin, such as raised, cone-shaped bumps on the skin, or differences in scarring (thickening or thinning of scars).

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bethlem-myopathy-109941/symptoms/67027 • DATE UPDATED: 2019-06-27

References

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/

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

Muscular Dystrophy Australia, Bethlem Myopathy, https://www.mda.org.au/disorders/congenitalmd/bethlem-myopathy/ Accessed 21FEB19

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