Boy's aching legs, increasing trouble with stairs

'I know something is wrong with my son," his mother said anxiously as she searched my eyes for understanding. Her 9-year-old son was a new patient of ours, recently transferred from another pediatric practice. He had a medical history of delays in speech and in school, and had started walking a little late at 14 months old.

When he was 4, his mother described him to previous pediatricians as being "clumsy," but was reassured that this could be just part of his delays. He received physical therapy starting at 4, without much improvement.

When he came to our clinic for the first time, his mother mentioned that over the last few months he had more trouble walking up stairs, having to have both feet on one step before being able to climb to the next. His mother also stated that it was harder for him to keep up with peers during recess. She also said that he complained about his calf muscles hurting after exercising. His mother's desperation for an explanation of these symptoms was palpable.

No one in his family had anything like this. No one had any muscle or neurological issues.

His physical exam was relatively normal. He had good strength in his arms and legs, but when asked to touch his toes, he had trouble bringing his body back up to a standing position and had to use his arms to climb up his legs, then his midsection, to finally get back to an upright position.

He complained of pain in his calves as well. Both looked mildly enlarged.

"What now?" his mother asked, her feet planted firmly on the exam room floor, arms crossed, until she had an answer.

Reassurance this time was not enough; she wanted answers.

We ordered several lab tests and awaited their results.

Two days later, a call from our laboratory compelled us to immediately arrange consultations with a cardiologist and neurologist.

In 1966, entertainer Jerry Lewis held the first of his Labor Day telethons that would continue until 2010, raising more than $2 billion for a then-little-known disease, muscular dystrophy. The tests we ran confirmed for this mother that her suspicions were correct and that her son had a serious condition, specifically Becker muscular dystrophy.

His white blood cell counts, thyroid levels, and kidney function were all normal. His creatine kinase level, which tests for muscle destruction, was significantly elevated. A normal level is 100. His was 12,000.

Becker muscular dystrophy is one of nine types of muscular dystrophies, which are genetic muscular diseases that get worse over time.

The most well known, and the one that was most featured in the Labor Day telethons, is Duchenne muscular dystrophy (DMD), which leaves those affected in wheelchairs by the time they are in their late teens. In 1987, the cause of most muscular dystrophies was identified as either the absence, as in Duchenne, or a decrease, as in Becker, of a protein called dystrophin. This protein is vital for muscle movement and anchoring muscle cells to their surroundings. There are also small amounts of dystrophin in brain cells, which can lead to learning issues. It is also fundamental for heart function.

Over time, people with muscular dystrophy experience muscle wasting and weakness, and in some areas of the body such as the calves, have fat replacing lost muscle, which causes pain and makes calves look enlarged. It's almost exclusively a male disease, linked to the X chromosome.

A classic indication of muscular dystrophy is the "Gowers' sign," in which a child has to use his less-affected muscles, his arms and legs, to help himself get up from a chair or the floor by pushing on his upper legs and hips with his arms.

As long as the heart isn't very involved, most children with the Becker type survive into mid- to late adulthood. Treatments include physical therapy, assistance with schoolwork, and prednisone to try to slow the progression of muscle weakness.

There are several experimental medications and gene therapies in the drug pipeline to decrease these effects and replace the missing dystrophin protein.

Information about the muscular dystrophies can be found at www.mda.org.

Our patient is now getting physical therapy and learning support, and is on prednisone. His mother feels that his disease has slowed down a little, but knows that they have a long road ahead. Her love, intuition, and determination came together to finally put a name to her son's condition.