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Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 2


Other Names for this Disease

  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might myotonic dystrophy type 2 be treated?

There is currently no treatment available to stop or slow the progression of myotonic dystrophy type 2. Management options depend on the symptoms that each affected person has, and aim to treat each specific symptom. For example:

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.[1]

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.[1]

You can see more detailed information about the management of myotonic dystrophy type 2 on the GeneReviews Web site.

Last updated: 2/11/2014

What are the signs and symptoms of myotonic dystrophy type 2?

Myotonic dystrophy type 2 is characterized by progressive muscle wasting and weakness. Symptoms typically begin in a person's twenties. People with this condition often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech; temporary locking of their jaw; and muscle pain and weakness that mainly affects the neck, shoulders, elbows, and hips. Less common symptoms include abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects); clouding of the lens in the eyes (cataracts); and diabetes. Males may experience balding and infertility. The severity of symptoms varies among affected people. Compared to myotonic dystrophy type 1, type 2 is milder and does not necessarily shorten a person's lifespan.[2][3]
Last updated: 2/10/2014

What is the usual course of myotonic dystrophy type 2?

Symptoms of myotonic dystrophy type 2 typically begin in a person's 20s, with the most common symptoms being muscle weakness and pain. The muscles often affected in the earliest stages of the disease are the neck flexors and finger flexors. The next muscles that become affected by weakness are typically the elbow extensors and the hip flexors and extensors. Thirty percent of affected people have weakness of the hip muscles that develops after 50 years of age.[1]

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).[1] Because of this, it is not possible to predict the future course of the condition in an affected person.
Last updated: 2/11/2014

What is the long-term outlook for people with myotonic dystrophy type 2?

In general, people with myotonic dystrophy type 2 have a better long-term outlook (prognosis) than those with type 1. Symptoms are usually relatively mild. While the rate of progression can vary among affected people, symptoms generally progress slowly.[4] While mobility may be impaired at an earlier age, the ability to walk is often retained until around 60 years of age.[5][4]

The prognosis for affected people can depend on the extent of heart (cardiac) involvement.[5] While definitive information is not available, it appears there is relatively little shortening of the lifespan in people with myotonic dystrophy type 2.[6]
Last updated: 2/11/2014

References
Other Names for this Disease
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.