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Muscular dystrophy


Información en español Title


Categories:
Musculoskeletal Diseases
Subtypes:
Becker muscular dystrophy; Congenital muscular dystrophy; Duchenne muscular dystrophy; Becker muscular dystrophy; Congenital muscular dystrophy; Duchenne muscular dystrophy; Emery-Dreifuss muscular dystrophy; Facioscapulohumeral muscular dystrophy; Hereditary proximal myopathy with early respiratory failure; Limb-girdle muscular dystrophy; MYH7-related scapuloperoneal myopathy; Myotonic dystrophy; Oculopharyngeal muscular dystrophy; Oculopharyngodistal myopathy; Schwartz Jampel syndrome; X-linked dominant scapuloperoneal myopathy; X-linked myopathy with excessive autophagy See More

Summary Summary


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Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.[1][2] The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.[1]
Last updated: 2/16/2011

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
Do you have updated information on this disease? We want to hear from you.

Organizations Organizations


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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

  • Muscular Dystrophy Association (MDA)
    222 S Riverside Plaza
    Suite 1500
    Chicago, IL 60606
    Toll-free: 1-800-572-1717
    TTY: 1-800-572-1717
    E-mail: mda@mdausa.org
    Website: http://www.mdausa.org/
  • Muscular Dystrophy Family Foundation
    P.O. Box 776
    Carmel, IN 46082
    Toll-free: 800-544-1213
    Telephone: 317-615-9140
    E-mail: http://mdff.org/contact-us/
    Website: http://www.mdff.org
    MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
  • 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: info@musculardystrophyuk.org
    Website: http://www.musculardystrophyuk.org/
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More


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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

  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Muscular dystrophy. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

  • Publication Highlights Release of Muscular Dystrophy Action Plan
    April 8, 2016

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are there any other diseases with the same symptoms as Duchenne muscular dystrophy? Can Silver-Russell syndrome mimic muscular dystrophy? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. NINDS Muscular Dystrophy Information Page. National Institute of Neurological Disorders and Stroke. 2016; http://www.ninds.nih.gov/disorders/md/md.htm.
  2. Do TT. Muscular Dystrophy. Mescape. October 4, 2016:http://emedicine.medscape.com/article/1259041-overview.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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