Muscular dystrophy - Duchenne type

Alternative names

Pseudohypertrophic muscular dystrophy; Duchenne muscular dystrophy

Definition

Duchenne muscular dystrophy is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body.

Causes, incidence, and risk factors

Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy. It is caused by a defective gene, but it often occurs in people from families without a known family history of the condition. It is marked by progressive loss of muscle function, which begins in the lower limbs. The cause of the muscle impairment is an abnormal gene for dystrophin (a protein in the muscles).

Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. Because women have two X chromosomes, if one contains a normal copy of the gene, that gene will make enough of the protein to prevent symptoms. But boys have an X chromosome from their mother and a Y from father, so if the X chromosome is defective, there is no second X to make up for it and they will develop the disease.

The sons of carrier females (women with one defective chromosome but no symptoms themselves) each have a 50% chance of having the disease, and the daughters each have a 50% chance of being carriers.

Symptoms usually appear before age 6 and may appear as early as infancy. There is progressive muscle weakness of the legs and pelvis, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body.

Calf muscles initially enlarge - the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the legs, rendering the muscles unusable because the muscle fibers shorten and fibrosis occurs in connective tissue.

Symptoms usually appear in boys aged 1-6. By age 10, braces may be required for walking, and by age 12, most patients are confined to a wheelchair. Bones develop abnormally, causing skeletal deformities of the spine and other areas.

Muscular weakness and skeletal deformities contribute to frequent breathing disorders. Cardiomyopathy occurs in almost all cases. Intellectual impairment may occur, but it is not inevitable and does not worsen as the disorder progresses.

Duchenne muscular dystrophy occurs in approximately 2 out of 10,000 people. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. In contrast, Becker muscular dystrophy is a form that progresses much more slowly.