The following information may help to address your question:
What is myotonic dystrophy?
is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy
that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia
) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family.
Myotonic dystrophy is caused by mutations
(changes) in the DMPK gene
or the CNBP (ZNF9)
gene depending on the specific type of myotonic dystrophy. The disease is inherited
in an autosomal dominant
Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing
Treatment is based on each person’s specific signs and symptoms and may include physical therapy
, pain management with medication, and consultation with specialists.
Last updated: 8/21/2017
What treatment is available for myotonic dystrophy?
There is currently no cure or specific treatment for myotonic dystrophy.
Treatment is aimed at managing symptoms of the disease.
Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain.
Canes, braces, walkers, and scooters can help as muscle weakness progresses.
There are also medications that can lessen pain associated with myotonic dystrophy.
Pain management can be achieved through the use of medications prescribed by a doctor.
Heart problems associated with myotonic dystrophy can be treated through the insertion
of a pacemaker
, medications, and regular monitoring of cardiac function. Cataracts
can be surgically removed. Testosterone replacement therapy
may be used to treat infertility in males.
Current research is focusing on how we might be able to one day use gene-editing technology or other treatments to remove the clumps of RNA
that cause the symptoms of myotonic dystrophy. However, this therapy is not yet possible in humans.
GeneReviews has more detailed information about the management of myotonic dystrophy type 1
and type 2
Last updated: 8/21/2017
Are there any treatment research studies enrolling people with myotonic dystrophy?
Yes. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. ClinicalTrials.gov lists trials that are studying or have studied myotonic dystrophy. Click on the link above to view a list of these studies. After you click on a study, review its 'eligibility' criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222 to speak with a specialist, who can help you determine if your sister is eligible for any clinical trials.
You can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
In 2000, the National Registry for Myotonic Dystrophy (DM) and Facioscapilohumeral Muscular Dystrophy (FSHD)
was developed at the University of Rochester in Rochester, New York with funding from the National Institutes of Health (NIH). It was developed to facilitate research by making anonymous data on Registry members available to investigators, by helping them recruit subjects into their clinical studies, and by providing educational materials to patients and family members. Click on the link above to learn how to join this registry.
Last updated: 7/15/2011
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
GARD Information Specialist
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