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Myotonic dystrophy type 2
Other Names for this Disease
- Dystrophia myotonica type 2
- Myotonic myopathy, proximal
- Proximal myotonic myopathy
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There is currently no cure or specific treatment for myotonic dystrophy. Management includes ankle supports and leg braces, wheelchairs, or other assistive devices as needed for weakness; cardiac pacemaker placement for those with arrhythmias; removal of cataracts that impair vision; testosterone replacement therapy for hypogonadism in males; and avoidance of cholesterol-lowering medications when associated with increased weakness. Although myotonia rarely requires treatment, some individuals may benefit from medication. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Medications used with some success in pain management include mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (e.g., 5 mg prednisone on alternate days), and tricyclic antidepressants. Surveillance includes annual ECG to detect/monitor cardiac conduction defects, annual measurement of fasting serum glucose concentration and glycosylated hemoglobin level, and testing of males every few years for evidence of hypogonadism.
Last updated: 4/8/2012
- Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 23, 2011; http://www.genome.gov/25521207. Accessed 4/8/2012.
- Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. GeneReviews. April 23, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1466/. Accessed 4/8/2012.
- Facts About Myotonic Muscular Dystrophy. Muscular Dystrophy Association. December 2011; http://static.mda.org/publications/PDFs/FA-MMD.pdf. Accessed 6/14/2013.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Clinical Trials & Research for this Disease
- Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.