Muscular Dystrophy in Children

Muscular dystrophy is a genetic disorder that gradually weakens the body's muscles. It is caused by incorrect or missing genetic information that prevents the body from making the proteins it needs to build and maintain healthy muscles. A child who is diagnosed with muscular dystrophy gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems.

There are several major forms of muscular dystrophy, which can affect a child's muscles in different levels of severity. In some cases, muscular dystrophy starts causing muscle problems in infancy, while in other symptoms do not appear until adulthood.

There is no cure for muscular dystrophy, but researchers are learning more about how to prevent and treat the condition. Doctors are also working on improving muscle and joint function, and slowing muscle deterioration so that kids, teens, and adults with muscular dystrophy can live as actively and independently as possible.

FIRST SYMPTOMS OF MUSCULAR DYSTROPHY

Many kids with muscular dystrophy follow a normal pattern of development during their first few years of life. However, in time, common symptoms begin to appear. A child who has muscular dystrophy may start to stumble, waddle, have difficulty going up stairs, and toe-walk. The child may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle. It is also common for a young child with muscular dystrophy to develop enlarged calf muscles, because muscle tissue is destroyed and replaced by fat.

HOW IS MUSCULAR DYSTROPHY DIAGNOSED?

When a doctor first suspects that a child has muscular dystrophy, he will do a physical exam, take a family history, and ask about any problems, particularly those affecting the muscles, which the child might be experiencing.

In addition to the physical exam, the doctor may perform a series of tests to determine what type of muscular dystrophy the child may have and to rule out any other diseases that may be causing a problem. These include blood tests and a muscle biopsy to examine a muscle tissue sample for patterns of deterioration.

Duchenne muscular dystrophy is the most common and the most severe form of the disease. It affects about 1 out of every 3,500 boys. Girls can carry the gene that causes the disease, but they usually do not have any symptoms. This form of muscular dystrophy occurs because of a problem with the gene that makes dystrophin. Without this protein, the muscles break down and a child becomes weaker.

In cases of duchenne muscular dystrophy, symptoms usually begin to appear around age five, as the pelvic muscles begin to weaken. Most kids with this form of muscular dystrophy need to use a wheelchair by age twelve. Over time, the muscles weaken in the shoulders, back, arms, and legs. Eventually, the respiratory muscles are affected, and a ventilator is required to assist breathing. Kids who have duchenne muscular dystrophy typically have a life span of about twenty years.