Bethlem Myopathy


What are the first steps after an initial diagnosis of Bethlem myopathy?

After an initial diagnosis of Bethlem myopathy, you should have an evaluation to exam the amount of muscle weakness and mobility that you have and to look for any joint contractures. These examinations may be performed by a neurologist, orthopedist, or physiatrist. There are also doctors in these specialties who specialize in neuromuscular disorders. Bethlem myopathy falls into the category of a neuromuscular disorder.

Evaluation with a physical therapist may be helpful to learn the best ways for stretching, splinting for contractures, and use of mobility aids. For those with ankle contractures where surgery is considered, orthopedic evaluation is recommended. Affected individuals should also be evaluated to see if they have any breathing problems that may be associated with Bethlem myopathy.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2019-02-22


Genetics home reference, Collagen VI-related myopathy, 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:

Muscular Dystrophy UK, , Accessed 21FEB19 Muscular Dystrophy Canada, Accessed 21FEB19

Muscular Dystrophy Australia, Bethlem Myopathy, Accessed 21FEB19

Muscular Dystrophy Association, Accessed 21FEB19

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