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 start 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.
Genetic therapies may be helpful to certain patients, depending on the genetic cause. Each therapy only works on a small number of patients, depending on their specific mutation. Treatments include:
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 from lung disorders, although advances in supportive care have resulted in many men living to age 35 years.
Complications may include:
Contact 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.
Genetic and Rare Diseases Information Center (GARD). Duchenne muscular dystrophy. rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Updated November 8, 2021. Accessed June 3, 2022.
Muscular Dystrophy Association website. Duchenne muscular dystorphy. www.mda.org/disease/duchenne-muscular-dystrophy. Accessed March 30, 2022.
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, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 35.BACK TO TOP
Review Date: 11/9/2021
Reviewed By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Editorial update 06/03/2022.
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