Bethlem Myopathy
Treatment
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.
References
- Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/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: https://www.ncbi.nlm.nih.gov/books/NBK1503/
- Muscular Dystrophy UK, https://www.musculardystrophyuk.org/ , Accessed 21FEB19 Muscular Dystrophy Canada, http://www.muscle.ca/ Accessed 21FEB19
- Muscular Dystrophy Australia, Bethlem Myopathy, https://www.mda.org.au/disorders/congenitalmd/bethlem-myopathy/ Accessed 21FEB19
- Muscular Dystrophy Association, https://www.mda.org/ Accessed 21FEB19
More Treatment Content
Is there treatment for Bethlem myopathy?
What treatment can help symptoms of Bethlem myopathy from getting worse?
Are there things to avoid if you have Bethlem myopathy?
Is there treatment for Bethlem myopathy?
There is no specific treatment for Bethlem myopathy. Treatments are based on symptoms that are present and aims to reduce symptoms and improve quality of life. Treatments for Bethlem myopathy usually include physical therapy, stretching, splinting, and bracing. This helps to increase mobility. Assistive devices such as a cane, crutches, or a wheelchair may be helpful for people who have trouble getting around outside of the home. Rarely, people with Bethlem myopathy may need surgery to help with joint contractures. Some people may also need support breathing with use of a mask, if they develop breathing problems later in life.
References
- Muscular Dystrophy Association, https://www.mda.org/ Accessed 21FEB19
- Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/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: https://www.ncbi.nlm.nih.gov/books/NBK1503/
What treatment can help symptoms of Bethlem myopathy from getting worse?
Bethlem myopathy is a slowly progressive disease but treatment may help individuals with mobility and to improve quality of life. Physical therapy, stretching, splinting, and bracing may help symptoms of Bethlem myopathy from getting worse to increase muscle strength and maintain mobility.
Each person with Bethlem myopathy is different, so it is best to work with your care team to find what works best for you. It is important to have the right amount of activity as too little or too much activity may make symptoms worse.
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/
- Muscular Dystrophy Association, https://www.mda.org/ Accessed 21FEB19
- Muscular Dystrophy Australia, Bethlem Myopathy, https://www.mda.org.au/disorders/congenitalmd/bethlem-myopathy/ Accessed 21FEB19
- Muscular Dystrophy UK, https://www.musculardystrophyuk.org/ , Accessed 21FEB19 Muscular Dystrophy Canada, http://www.muscle.ca/ Accessed 21FEB19
Are there things to avoid if you have Bethlem myopathy?
If you have Bethlem myopathy, there are no specific agents to avoid. You should avoid though too little or too much activity. It is important to have the right amount of physical activity to maintain mobility. In 2019 a study with a small number of people with Bethlem myopathy found that moderate-intensity aerobic exercise is helpful. It is important to talk to your doctor about the right amount of physical exercise for you if you have Bethlem myopathy.
References
- Muscular Dystrophy UK, https://www.musculardystrophyuk.org/ , Accessed 21FEB19 Muscular Dystrophy Canada, http://www.muscle.ca/ 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/
- Muscular Dystrophy Association, https://www.mda.org/ Accessed 21FEB19
- Vissing CR et. al, Muscle Nerve. 2019 Apr 26. https://www.ncbi.nlm.nih.gov/pubmed/31026058