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Duchenne muscular dystrophy

Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type

Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse.

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X-linked recessive genetic defects - how boys are affected
X-linked recessive genetic defects

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Causes

Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker muscular dystrophy) get worse much more slowly.

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

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:

Muscle weakness:

Progressive difficulty walking:

Exams and Tests

A complete nervous system (neurological), heart, lung, and muscle exam may show:

Tests may include:

Treatment

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.

Support Groups

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.

Outlook (Prognosis)

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.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your health care provider if:

Prevention

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.

Related Information

Weakness
Muscular dystrophy
Protein in diet
Muscle atrophy
Muscle cramps
Cardiomyopathy
Becker muscular dystrophy

References

Muscular Dystrophy Association website. www.mda.org/disease/duchenne-muscular-dystrophy. Accessed December 7, 2017.

Sarnat HB. Muscular dystrophies. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 609.

Selcen D. Muscle diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 421.

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.

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Review Date: 11/22/2017  

Reviewed By: Luc Jasmin, MD, PhD, FRCS (C), FACS, Department of Surgery at Providence Medical Center, Medford OR; Department of Surgery at Ashland Community Hospital, Ashland OR; Department of Maxillofacial Surgery at UCSF, San Francisco, CA. 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.

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