Duchenne muscular dystrophy

Cause
Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene, the largest gene located on the human X chromosome, which codes for the protein dystrophin an important structural component within muscle tissue that provides structural stability to the cell membrane.

Symptoms
The main symptom of Duchenne muscular dystrophy is muscle weakness associated with muscle wasting with the voluntary muscles being first affected, especially affecting the muscles of the hips, pelvic area, thighs, shoulders, and calf muscles. Muscle weakness also occurs in the arms, neck, and other areas, but not as early as in the lower half of the body. Calves are often enlarged. Symptoms usually appear before age 6 and may appear as early as infancy. The other physical symptoms are: Awkward manner of walking, stepping, or running. (patients tend to walk on their forefeet, because of an increased calf tonus. Also, toe walking is a compensatory adaptation to knee extensor weakness.) Frequent falls Fatigue Difficulty with motor skills (running, hopping, jumping) Progressive difficulty walking Muscle fiber deformities Skeletal deformities Pseudohypertrophy (enlarging) of tongue and calf muscles. The muscle tissue is eventually replaced by fat and connective tissue, hence the term pseudohypertrophy. Higher risk of neurobehavioral disorders, learning disorders (dyslexia), and non-progressive weaknesses in specific cognitive skills (in particular short-term verbal memory), which are believed to be the result of absent or dysfunctional dystrophin in the brain. Eventual loss of ability to walk (usually by the age of 12)

Treatment
There is no current cure for Duchenne muscular dystrophy. However, treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life, and include the following: Corticosteroids increase energy and strength and defer severity of some symptoms. Mild physical activity such as swimming is encouraged. Inactivity (such as bed rest) can worsen the muscle disease. Physical therapy is helpful to maintain muscle strength, flexibility, and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care. Appropriate respiratory support as the disease progresses is important.