Myotonic dystrophy type 2
- Dystrophia myotonica type 2
- Proximal myotonic myopathy
- Myotonic myopathy, proximal
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- Ankle-foot braces, wheelchairs, or other assistive devices may be used as needed for weakness
- Defibrillator placement may be needed for arrhythmias
- Cataracts can be removed for those with impaired vision
- Testosterone replacement therapy may be useful for hypogonadism in males
Myotonia is usually mild and rarely requires treatment. Routine exercise appears to help with pain control, as well as with muscle strength and endurance. The effectiveness of most medications for pain management varies. Mexilitene, which is very effective for some forms of myotonia, has helped control muscle pain in some people with this condition. Other medications that have been used with some success include gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids, and tricyclic antidepressants. Cholesterol-lowering medications should be avoided when they are associated with increased weakness.
There are steps a person can take to prevent some secondary complications. Anesthetic risk may be increased, so careful assessment of heart and respiratory function before and after surgery are recommended. Affected people should also have a yearly electrocardiogram or cardiac MRI to detect possible conduction defects or cardiomyopathy.
You can see more detailed information about the management of myotonic dystrophy type 2 on the GeneReviews Web site.
- Joline C Dalton, Laura PW Ranum, and John W Day. Myotonic Dystrophy Type 2. GeneReviews. July 3, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1466/. Accessed 2/10/2014.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.