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. (Recessive means the trait doesn't occur in the presence of a dominant gene.) This means that women are almost never affected; women normally have two X chromosomes, one of which contains a normal, dominant copy of the gene that will make enough of the protein for them to avoid symptoms. Women who carry the defective gene can pass an abnormal X on to their sons, however. Since boys have an X from their mother and a Y from father, there is no second X to make up for the defective gene from the carrier mother.

The sons of carrier females 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 males 1 to 6 years old. 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

• Muscle weakness
  • Rapidly progressive
  • Frequent falls
  • Difficulty with motor skills (running, hopping, jumping)
• Progressive difficulty walking
  • Ability to walk may be lost by age 12
• Fatigue
• Intellectual retardation (possible)
• Skeletal deformities
  • Chest and back (scoliosis)
• Muscle deformities
  • Contractures of heels, legs
  • Pseudohypertrophy of calf muscles

• A serum CPK is highly elevated.
• A neurologic exam demonstrates weaness and lack of coordination or balance.
• An EMG (electromyography) shows that weakness is caused by destruction of muscle tissue rather than nerve damage.
• A muscle biopsy confirms the diagnosis.

There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.

Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care.

• Deformities
• Permanent, progressive disability
  • Decreased mobility
  • Decreased ability for self-care
• Mental impairment (varies, usually minimal)
• Pneumonia or other respiratory infections
• Respiratory failure
• Cardiomyopathy
• Congestive heart failure (rare)
• Heart arrhythmias (rare)