Many kids with muscular dystrophy follow a normal pattern of development during their first few years of life.

FIRST SYMPTOMS

Although the first few years, development seems normal, but in time common symptoms begin to appear. A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk (walk on the toes without the heels hitting the floor). A 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.

Kids with MD often develop enlarged calf muscles (called calf pseudohypertrophy) as muscle tissue is destroyed and replaced by fat.

DIAGNOSIS

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

In addition, the doctor may perform tests to determine what type of MD is involved and to rule out other diseases that could cause the problem. These might include a blood test to measure levels of serum creatine kinase, an enzyme that's released into the bloodstream when muscle fibers are deteriorating. Elevated levels indicate that something is causing muscle damage.

The doctor also may do a blood test to check the DNA for gene abnormalities or a muscle biopsy to examine a muscle tissue sample for patterns of deterioration and abnormal levels of dystrophin, a protein that helps muscle cells keep their shape and length. Without dystrophin, the muscles break down.