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Disease Profile
Myotonic dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
-
ICD-10
G71.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dystrophia myotonica; Myotonia atrophica; Myotonia dystrophica
Categories
Musculoskeletal Diseases
Summary
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.[1][2]
Myotonic dystrophy is caused by
Symptoms
Other signs and symptoms of myotonic dystrophy can include
In some cases, babies are born with a variation of myotonic dystrophy type 1 called congenital myotonic dystrophy. Symptoms of
Cause
The exact functions of the DMPK and CNBP genes are not well understood. DMPK may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives the body directions to make a protein found mainly in the cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes.[1]
Diagnosis
There are several laboratory tests that can be used to clarify the clinical diagnosis of myotonic dystrophy. One test, called electromyography (EMG), involves inserting a small needle into the muscle. The electrical activity of the muscle is studied and usually shows characteristic patterns of myotonic dystrophy.[3] Other laboratory tests may include a muscle biopsy, which can be used to determine if the muscle fibers are weaker than they should be (atrophied), or a blood test to determine if there are elevated levels of certain muscle
The definitive test for myotonic dystrophy is a genetic test. For this test, a blood or saliva sample is analyzed to determine if there is a
The University of Washington provides more information on
Treatment
There are also medications that can lessen pain associated with myotonic dystrophy.[5] Pain management can be achieved through the use of medications prescribed by a doctor.[4][8] Heart problems associated with myotonic dystrophy can be treated through the
Current research is focusing on how we might be able to one day use
GeneReviews has more detailed information about the management of myotonic dystrophy type 1 and type 2.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Myotonic Dystrophy Foundation
1004-A O'Reilly Avenue
San Francisco, CA 94129
Toll-free: 1-86-MYOTONIC (1-866-968-6642)
Telephone: +1-415-800-7777
E-mail: [email protected]
Website: https://www.myotonic.org -
Myotonic Dystrophy Support Group
19-21 Main Road
Gedling
Nottingham
NG4 3HQ
United Kingdom
Telephone: 0808 169 1960
E-mail: [email protected]
Website: https://www.myotonicdystrophysupportgroup.org/
Organizations Providing General Support
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Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: [email protected]
Website: https://www.musculardystrophyuk.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on Myotonic dystrophy. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The Muscular Dystrophy Association (MDA) provides additional information about myotonic dystrophy. Click on the link to view this information.
- The Myotonic Dystrophy Foundation provides additional information about Myotonic dystrophy.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonic dystrophy. Click on the link to view a sample search on this topic.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles on myotonic dystrophy type 1 and myotonic dystrophy type 2. These articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Selected Full-Text Journal Articles
- Mulders SAM et al., Molecular therapy in myotonic dystrophy: Focus on RNA gain-of-function. Human Molecular Genetics. 2010:19(1):R90-R97.
References
- Myotonic dystrophy. Genetics Home Reference (GHR). November 2010; https://ghr.nlm.nih.gov/condition/myotonic-dystrophy.
- Myotonic Dystrophy 1; DM1. Online Mendelian Inheritance in Man. July 6, 2017; https://www.omim.org/entry/160900.
- Dalton JC, Ranum LPW, and Day JW. Myotonic Dystrophy Type 2. GeneReviews. July 3, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1466/.
- Bird TD. Myotonic Dystrophy Type 1. GeneReviews. October 22, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1165/.
- Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). June 5, 2017; https://www.genome.gov/25521207/.
- Bird TD. Myotonic Dystrophy. National Organization for Rare Disorders. 2017; https://rarediseases.org/rare-diseases/dystrophy-myotonic/.
- O’Sullivan Smith C, Bennett RL, and Bird TD. Myotonic Dystrophy: Making an Informed Choice About Genetic Testing. Department of Neurology, University of Washington School of Medicine. https://depts.washington.edu/neurolog/images/neurogenetics/myotonic.pdf. Accessed 8/16/2017.
- Adult-Onset MMD1/MMD2 and Juvenile-Onset MMD1. Muscular Dystrophy Association (MDA). 2017; https://www.mda.org/disease/myotonic-muscular-dystrophy/medical-management/adult-mmd1-mmd2-juvenile-mmd1. Accessed 8/16/2017.
- Batra R, Nelles DA, Pirie E, Blue SM, Marina RJ, Wang H, Chaim IA, Thomas JD, Zhang N, Nguyen V, Aigner S, Markmiller S, Xia G, Corbett KD, Swanson MS, and Yeo GW. Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. Cell. August 8, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28803727.
- Konieczny P, Selma-Soriano E, Rapisarda AS, Fernandez-Costa JM, Perez-Alonso M, and Artero R. Myotonic dystrophy: candidate small molecule therapeutics. Drug Discovery Today. August 2, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28780071.
- Managing DM: FAQs. Myotonic Dystrophy Foundation. https://www.myotonic.org/what-dm/faqs. Accessed 8/16/2017.
- Darras BT and Chad DA. Myotonic dystrophy: Etiology, clinical features, and diagnosis. UpToDate. June 6, 2017; https://www.uptodate.com/contents/myotonic-dystrophy-etiology-clinical-features-and-diagnosis#H191953850.
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