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 usually appear before age 6 and may appear as early as infancy. They may include:
Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.
Congestive heart failure (rare)
Heart arrhythmias (rare)
Mental impairment (varies, usually minimal)
Permanent, progressive disability
Decreased ability to care for self
Pneumonia or other respiratory infections
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
Genetic counseling is advised if there is a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa:Saunders Elsevier; 2007:chap 608.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; and Benjamin Seckler, MD, Diagnostic Radiologist, Poughkeepsie, NY, and President of Charley's Fund; and Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.