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.

• 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

Muscle wasting (atrophy) begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious.

Cardiomyopathy is commonly present, but signs of congestive heart failure or arrhythmias (irregular heartbeats) are rare. Respiratory disorders are common during the later stages, including pneumonia and aspiration of food or fluid into the lungs.

• 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. Gene therapy may become available in the future.

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)