Myotonic dystrophy type 2
- Dystrophia myotonica type 2
- Proximal myotonic myopathy
- Myotonic myopathy, proximal
Your QuestionI am 36 and I have been fighting this since my twenties. It started in my legs and now my neck. I want to know is there something to slow this down, what's next, and is my life span shortened?
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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.
The specific symptoms, severity of symptoms, and rate of progression in affected people varies. For example, only a portion of affected people have cardiac conduction defects, cataracts, and/or endocrine changes such as insulin sensitivity or testicular failure (in males). Because of this, it is not possible to predict the future course of the condition in an affected person.
The prognosis for affected people can depend on the extent of heart (cardiac) involvement. While definitive information is not available, it appears there is relatively little shortening of the lifespan in people with myotonic dystrophy type 2.
- 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.
- Myotonic dystrophy. Genetics Home Reference (GHR). November 2010; http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed 5/11/2011.
- 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.
- Myotonic muscular dystrophy. Muscular Dystrophy Association. http://mda.org/disease/myotonic-muscular-dystrophy/overview. Accessed 2/10/2014.
- Françoise Bouhour. Proximal Myotonic Myopathy. Orphanet. July, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=606. Accessed 2/10/2014.
- David A Chad and Basil T Darras. Myotonic dystrophy: Prognosis and management. UpToDate. Waltham, MA: UpToDate; January, 2014; Accessed 2/10/2014.