Why does muscular dystrophy happen




















As the condition progresses, it becomes harder to move. In some cases, it can affect breathing and heart function, leading to life-threatening complications. Depending on the type and severity, the effects can be mild, progressing slowly over a normal lifespan, there may be moderate disability, or it can be fatal.

The symptoms of Becker muscular dystrophy are similar but tend start in the mid-twenties or later, are milder, and progress more slowly. Currently, there is no cure for muscular dystrophy. Medications and various therapies help slow the progression of the disease and keep the patient mobile for the longest possible time.

Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.

Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein dystrophin. Dystrophin makes up just 0. Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma — the outer membrane.

If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves. In Duchenne muscular dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease. In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein.

The gene coding for dystrophin is the largest known gene in humans. More than 1, mutations in this gene have been identified in Duchenne and Becker muscular dystrophy.

Duchenne muscular dystrophy can lead to life-threatening complications, such as breathing difficulties and heart problems.

In the past, people with this condition did not usually survive beyond their 20s, but progress is improving the outlook. Currently, the average life expectancy for people with Duchenne is 27 years , and it may improve in time, as treatment progresses. A person with muscular dystrophy is likely to need lifelong assistance.

People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children. Mayo Clinic does not endorse companies or products.

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Overview Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Ferri FF. Muscular dystrophy. In: Ferri's Clinical Advisor Elsevier; Accessed Dec. NINDS muscular dystrophy information page. National Institute of Neurological Disorders and Stroke. Mayo Clinic; Darras BT. Clinical trials are ongoing and new medicines are being developed to treat and possibly cure muscular dystrophy.

Treatment for muscular dystrophy depends on how old the child is, what kind of muscular dystrophy they have, and how severe it is. Treatment may include:. If your child has muscular dystrophy, a care team of medical specialists will work with you and your family to help your child get the best care.

The care team may include: a neurologist, orthopedist, pulmonologist, physical therapist, occupational therapist , nurse practitioner, cardiologist, registered dietician, and a social worker.

Reviewed by: Amy W. Anzilotti, MD. Larger text size Large text size Regular text size. What Is Muscular Dystrophy?



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