Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type
Duchenne muscular dystrophy is an inherited disorder. It 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.
The condition most often affects boys due to the way the disease is inherited. The sons of women 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 female 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 most often appear before age 6. They may come on as early as infancy. Most boys show no symptoms in the first few years of life.
Symptoms 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.
The use of steroids and the lack of physical activity can lead to excessive weight gain. 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.
Duchenne muscular dystrophy leads to progressively worsening disability. Death often occurs by age 25, typically from lung disorders. However, advances in supportive care have resulted in many men living much longer than this.
Complications may include:
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.
Muscular Dystrophy Association.
Sarnat HB. Muscular dystrophies. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 609.
Warner WC, Sawyer JR. Neuromuscular disorders. In: Canale ST, Beaty JH, eds. Campbell's Operative Orthopaedics. 12th ed. Philadelphia, PA: Elsevier Mosby; 2013:chap 35.
Last reviewed on: 1/5/2016
Reviewed by: Joseph V. Campellone, MD, Division of Neurology, Cooper University Hospital, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.