Myotonic Dystrophy Definition, Causes and More
Article Sources
- 1. NHS Choices, NHS, www.nhs.uk/conditions/muscular-dystrophy/
- 2. 'Myotonic Dystrophy.' Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy.
- 3. 'The Myotonic Dystrophies.' Muscular Dystrophy UK, www.musculardystrophyuk.org/about-muscle-wasting-conditions/myotonic-dystrophy/myotonic-dystrophy-factsheet/.
6. Diagnosis of Myotonic Dystrophy
Myotonic dystrophy is usually diagnosed through a medical exam. Doctors look at which muscles are weakening and whether there is myotonia, or muscle stiffness. Medical history is also considered, and it's important to tell a doctor if myotonic dystrophy runs in the family.
Laboratory tests may be used, including a muscle biopsy and inserting a small needle into the muscle to measure electrical activity. A genetic test on the saliva or blood is the most definitive way to identify myotonic dystrophy.2‘Myotonic Dystrophy.’ Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy.
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