Muscular Dystrophy Information Page | National Institute …

Definition

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.DuchenneMD 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 withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD 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.MyotonicMD 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.

Definition

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.DuchenneMD 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 withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD 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.MyotonicMD 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.

Treatment

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.

Treatment

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.

Definition

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.DuchenneMD 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 withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD 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.MyotonicMD 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.

Treatment

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.

Prognosis

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.

Prognosis

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.

Prognosis

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.

Definition

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.DuchenneMD 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 withBeckerMD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.FacioscapulohumeralMD 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.MyotonicMD 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.

Treatment

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.

Prognosis

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.

What research is being done?

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:https://mdcc.nih.gov/

Information from the National Library of Medicines MedlinePlusMuscular Dystrophy

Patient Organizations

Centers for Disease Control and Prevention (CDC)

U.S. Department of Health and Human Services

1600 Clifton Road

Atlanta

GA

Atlanta, GA 30333

Tel: 800-311-3435; 404-639-3311; 404-639-3543

Coalition to Cure Calpain 3 (C3)

15 Compo Parkway

Westport

CT

Westport, CT 06880

Tel: 203-221-1611

Cure CMD

P.O. Box 701

Olathe

KS

Olathe, KS 66051

Tel: 424-265-0874

Facioscapulohumeral Muscular Dystrophy (FSH) Society

64 Grove Street

Watertown

MA

Watertown, MA 02472

Tel: 617-658-7877

Jain Foundation

9725 Third Avenue NE

Suite 204

Seattle

WA

Seattle, WA 98115

Tel: 425-882-1440

Muscular Dystrophy Association

National Office - 222 S. Riverside Plaza

Suite 1500

Chicago

IL

Chicago, IL 60606

Tel: 800-572-1717

Myotonic Dystrophy Foundation

1004 O'Reilly Avenue

San Francisco

CA

San Francisco, CA 94129

Tel: 86-MYOTONIC; 415-800-7777

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

National Institutes of Health, DHHS

31 Center Dr., Rm. 4C02 MSC 2350

Bethesda

MD

Bethesda, MD 20892-2350

Tel: 301-496-8190; 877-22-NIAMS (226-4267)

National Institute of Child Health and Human Development (NICHD)

National Institutes of Health, DHHS

31 Center Drive, Rm. 2A32 MSC 2425

Bethesda

MD

Bethesda, MD 20892-2425

Tel: 301-496-5133

Parent Project Muscular Dystrophy (PPMD)

401 Hackensack Avenue, 9th Floor

Hackensack

NJ

Hackensack, NJ 07601

Tel: 800-714-KIDS (5437)

Publications

Muscular Dystrophy (MD) information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Patient Organizations

Read this article:
Muscular Dystrophy Information Page | National Institute ...