Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type
Duchenne muscular dystrophy is an inherited muscular disease. 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 3600 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.
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 often occurs by age 25, typically from lung disorders. However, advances in supportive care have resulted in many men living longer.
Complications may include:
Call your health care provider if:
People with a family history of the disease may want to seek genetic counseling. Genetic studies done during pregnancy are very accurate in detecting Duchenne muscular dystrophy.
Bharucha-Goebel DX. Muscular dystrophies. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 627.
Muscular Dystrophy Association website. www.mda.org/disease/duchenne-muscular-dystrophy. Accessed October 27, 2019.
Selcen D. Muscle diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 393.
Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, Canale ST, eds. Campbell's Operative Orthopaedics. 13th ed. Philadelphia, PA: Elsevier; 2017:chap 35.BACK TO TOP
Review Date: 9/17/2019
Reviewed By: Alireza Minagar, MD, MBA, Professor, Department of Neurology, LSU Health Sciences Center, Shreveport, LA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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