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, it usually affects boys. 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. Very rarely, a girl 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 usually appear before age 6 and may appear as early as infancy.
Duchenne muscular dystrophy leads to progressively worsening disability. Death usually occurs by age 25, typically from lung disorders.
Cardiomyopathy (can also occur in female carriers, who should also be screened)
Congestive heart failure (rare)
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
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
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.
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.
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.