The muscular dystrophies (MD) are 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 infancy or childhood, while others 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.Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck. There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability. The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit:http://www.ninds.nih.gov/find_people/groups/mdcc/index.htm http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=muscular+dystrophies[majr]+AND+human[mh]+AND+english[la]+AND+(review[ptyp]+OR+review+literature[mh]+OR+practice+guideline[ptyp]+OR+guideline[ptyp]+OR+clinical+trials[mh]+OR+clinical+trial[ptyp]+OR+consumerj[sb])&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=3+Years http://www.nlm.nih.gov/medlineplus/musculardystrophy.html 1 http://clinicaltrials.gov/ct2/results?term= /disorders/md/pubs_md.htm /disorders/md/xml_md.xml xml_md.xml V160 Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson AZ 85718-3208 mda@mdausa.org http://www.mda.org 520-529-2000 800-572-1717 520-529-5300 Voluntary health agency that fosters neuromuscular disease research and provides patient care funded almost entirely by individual private contributors. MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases. V616 Muscular Dystrophy Family Fund

1033 Third Avenue SW

Suite 108 Carmel IN 46032 info@mdff.org http://www.mdff.org 317-249-8488 317-615-9140 Provides services, resources, adaptive equipment, and home medical equipment to individuals with muscular dystrophy and their families to improve independence and quality of life. Focuses on meeting the day-to-day needs of individuals and families. V268 Parent Project Muscular Dystrophy (PPMD)

401 Hackensack Avenue, 9th Floor

Hackensack NJ 07601 info@parentprojectmd.org http://www.parentprojectmd.org 800-714-KIDS (5437) 201-944-9987 Dedicated to ending Duchenne -- to accelerate research, advocate, demand optimal care for all young men, and educate the global community. V928 Cure CMD

P.O. Box 701

Olathe KS 66051 info@curecmd.com http://www.curecmd.org 1-866-400-3626 Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD’s. V159 Facioscapulohumeral Muscular Dystrophy (FSH) Society

64 Grove Street

Watertown MA 02472 info@fshsociety.org http://www.fshsociety.org 617-658-7877 617-658-7879 Facilitates support groups, publishes a newsletter, organizes conferences and meetings, and awards research grants towards the prevention, cause and treatment of FacioScapuloHumeral muscular dystrophy worldwide. Provides public awareness of FSHD by providing information, referrals, education, and advocacy programs and services. Promotes collaborative research and collects and disseminates research information. V986 Coalition to Cure Calpain 3 (C3)

15 Compo Parkway

Westport CT 06880 info@curecalpain3.org http://www.curecalpain3.org/ 203-221-1611 734-668-4755 A voluntary health organization that provides support for promising research into finding treatments or a cure for limb-girdle muscular dystrophy, type 2A/calpainopathy (LGMD2A). V804 International Myotonic Dystrophy Organization

P.O. Box 1121

Sunland CA 91041-1121 info@myotonicdystrophy.org http://www.myotonicdystrophy.org 818-951-2311 866-679-7954 International foundation dedicated to improved management and treatment of Myotonic Dystrophy. Supports patients with information and services worldwide. V979 Jain Foundation

2310 130th Ave NE

Suite B101 Bellevue WA 98005 ehwang@jain-foundation.org https://www.jain-foundation.org/ 425-882-1440 425-658-1703 The Jain Foundation seeks to expedite development of a cure or therapy for Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy. In addition to educating physicians and patients about LBMD2B/Myoshi, the Foundation maintains a patient registry, offers help with diagnosis (e.g., funding dysferlin gene mutational analysis), funds and monitors research and progress, provides financial support to accelerate clinical trials, and encourages scientific collaboration. V635 National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

National Institutes of Health, DHHS

31 Center Dr., Rm. 4C02 MSC 2350 Bethesda MD 20892-2350 NIAMSinfo@mail.nih.gov http://www.niams.nih.gov 301-496-8190 877-22-NIAMS (226-4267) V633 National Institute of Child Health and Human Development (NICHD)

National Institutes of Health, DHHS

31 Center Drive, Rm. 2A32 MSC 2425 Bethesda MD 20892-2425 http://www.nichd.nih.gov 301-496-5133 301-496-7101 V696 Centers for Disease Control and Prevention (CDC)

U.S. Department of Health and Human Services

1600 Clifton Road, N.E. Atlanta GA 30333 inquiry@cdc.gov http://www.cdc.gov 800-311-3435 404-639-3311/404-639-3543