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A.D.A.M. Medical Encyclopedia [Internet]. Atlanta (GA): A.D.A.M.; 2013.

A.D.A.M. Medical Encyclopedia.

Duchenne muscular dystrophy

Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type

Last reviewed: February 3, 2014.

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

Causes

Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker's 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.

Because of the way the disease is inherited, boys are affected, not girls. 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.

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 usually appear before age 6 and may appear as early as infancy.

They may include:

  • Learning difficulties (the IQ can be below 75)
  • Intellectual disability (possible, but does not get worse over time)

Muscle weakness:

  • Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body
  • Problems with motor skills (running, hopping, jumping)
  • Frequent falls
  • Trouble getting up from a lying position or climbing stairs
  • Weakness quickly gets worse

Progressive difficulty walking:

  • Ability to walk may be lost by age 12, and the child will have to use a wheelchair
  • Breathing difficulties and heart disease usually start by age 20

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.

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:

  • Assisted ventilation (used during the day or night)
  • Drugs to help heart function, such as angiotensin-converting-enzyme inhibitors, beta-blockers, and diuretics
  • Orthopedic appliances (such as braces and wheelchairs) to improve mobility
  • Proton pump inhibitors (for people with gastroesophageal reflux)

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 usually occurs by age 25, typically from lung disorders.

Possible Complications

  • Cardiomyopathy (can also occur in female carriers, who should also be screened)
  • Congestive heart failure (rare)
  • Deformities
  • Heart arrhythmias (rare)
  • Mental impairment (varies, usually minimal)
  • Permanent, progressive disability, including decreased mobility and decreased ability to care for self
  • Pneumonia or other respiratory infections
  • Respiratory failure

When to Contact a Medical Professional

Call your health care provider if:

  • Your child has symptoms of Duchenne muscular dystrophy
  • Symptoms worsen, or new symptoms develop, particularly fever with cough or breathing difficulties

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.

References

  1. 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.

Review Date: 2/3/2014.

Reviewed 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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Copyright © 2013, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

What works?

  • Scoliosis surgery for people with Duchenne muscular dystrophyScoliosis surgery for people with Duchenne muscular dystrophy
    Scoliosis, curvature of the spine, is common in people with Duchenne muscular dystrophy. It is usually progressive and surgery is often performed aiming to halt its progression, improve cosmetic appearance, facilitate care, preserve upper limb and respiratory function, and hopefully increase life expectancy. However, there were no randomized controlled clinical trials available to evaluate the effectiveness of scoliosis surgery. Randomized controlled clinical trials are needed in this group of patients to evaluate the benefits and risks of different surgical treatments. This is an updated review and an updated search was undertaken in which no new studies were found.
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Figures

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    X-linked recessive genetic defects.

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