Description

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.

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.

Research

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 Medicine’s MedlinePlusMuscular Dystrophy

Coalition to Cure Calpain 3 (C3)

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).

Cure CMD

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.

Facioscapulohumeral Muscular Dystrophy (FSH) Society

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.

Jain Foundation

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.

Myotonic Dystrophy Foundation

The Myotonic Dystrophy Foundation (MDF) is the world’s largest patient organization focused solely on myotonic dystrophy. Their mission, “Care and a Cure,” is to enhance the quality of life of people living with myotonic dystrophy, and advance research focused on treatments and a cure.

Parent Project Muscular Dystrophy (PPMD)

Dedicated to ending Duchenne -- to accelerate research, advocate, demand optimal care for all young men, and educate the global community.