Duchenne muscular dystrophy is an inherited disorder that involves muscle weakness, which quickly gets worse.
Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.
Because of the way the disease is inherited, it usually affects boys. The sons of females who are carriers of the disease (women with a defective gene, but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. Very rarely, a girl can be affected by the disease.
Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.
Symptoms usually appear before age 6 and may appear as early as infancy.
They may include:
Progressive difficulty walking:
A complete nervous system (neurological), heart, lung, and muscle exam may show:
Tests may include:
There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life.
Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.
Other treatments may include:
However, the effects of these treatments have not been proven. Stem cells and gene therapy may be used in the future.
Activity is encouraged. Inactivity (such as bedrest) can make the muscle disease worse. Physical therapy may help to maintain muscle strength and function. Speech therapy is often needed.
Other treatments may include:
Several new treatments are being studied in trials.
You can ease the stress of illness by joining a support group where members share common experiences and problems. The Muscular Dystrophy Association is an excellent source of information on this disease.
Duchenne muscular dystrophy leads to progressively worsening disability. Death usually occurs by age 25, typically from lung disorders.
Call your health care provider if:
People with a family history of the disorder may want to seek genetic counseling. Genetic studies done during pregnancy are very accurate in detecting Duchenne muscular dystrophy.
Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type
Sarnat HB. Muscular dystrophies. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 601.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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