Muscular Dystrophy Health Video

Video Transcript

DR. REBECCA NELSON: Hi, I'm Dr. Rebecca Nelson. I'm a general pediatrician with The Vancouver Clinic in Vancouver, Washington. I'm here to talk about muscular dystrophies. Muscular dystrophies are genetic diseases which lead to progressive muscle wasting and weakness. Duchenne muscular dystrophy is one of nine different types. It is caused by an X-linked mutation, which means that it usually affects boys who inherit the disease through their mother. Occasionally, women who carry the gene may have symptoms themselves. The disease occurs in 1 out of 3,500 males, which is about 0.02% of the general population. The defective gene causes the body to be unable to make a protein called dystrophin. This protein plays an important role in protecting muscle fibers, so when it is not there the muscles are broken down by enzymes, which leads to degeneration and weakness. Children usually begin to show symptoms between 2 and 3 years of age although any given child may develop symptoms earlier or later in life. The weakness starts near the trunk with the hips, pelvis, thighs, and shoulders and spreads to the extremities, affecting the legs before the arms. A child may be late in learning to walk, may have difficulty running, jumping, and walking upstairs, or may use their hands to push themselves up from a sitting or squatting position. They are usually wheelchair bound by the age of 12. The disease is generally not painful. One-third of the children with Duchenne muscular dystrophy have learning disabilities. Some of the children may also develop scoliosis. As the disease progresses, weakness of the heart muscle may develop and weakness of the muscles that function in breathing can lead to respiratory problems and susceptibility to lung infection. It is rare for people with Duchenne muscular dystrophy to survive beyond their early 30s. Testing for Muscular dystrophy may include a blood test to identify signs of muscle damage, genetic testing, muscle biopsy, or electromyography, which is a test that evaluates the health of muscles and the nerve associated with them by measuring electrical activity. Early diagnosis of children who are affected by Duchenne muscular dystrophy is important to allow early treatment aimed at maximizing function and prolonging life expectancy. You can get more information on muscular dystrophy from you health care provider.