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The Early Diagnosis of Duchenne Muscular Dystrophy

Posted Feb 02 2010 2:56pm

It seems  little has changed in the last fifty years for an early diagnosis to be made when a boy has Duchenne Muscular Dystrophy. This was highlighted in  a recent Journal of Pediatrics article. Having cared for boys with Duchenne dystrophy in six neuromuscular programs since 1957 when I directed  the muscle disease program at the University of Rochester, this is of great concern to me. Many of the boys who were referred to me had already started kindergarten. Often a teacher was the one who was concerned. This means that other boys may have been born to the parents without the help of genetic counseling.  I have seen families who had three and four boys with this disorder.

The diagnosis is one of the simplest ones in pediatrics, as far as I am concerned. Fifty percent of the boys are late walkers, ie after 18 months, developmental delay is apparent in about two-thirds of the boys, they have a very specific pattern of muscle weakness, plus a markedly elevated  CPK. (A blood test). The youngest boy I diagnosed without a family history was 18 months old. A very smart child development doctor referred him to me. I followed this youth for almost 28 years. He died last year.

Unfortunately, I find that pediatricians, pediatric neurologists, child development specialists and orthopedists receive almost no training in pediatric neuromuscular disorders. This causes the parents of a chikl with these disorders months and often years of not knowing what is wrong and keeps the child from having  appropriate therapy. There is a great deal that can be done to keep boys with Duchenne dystrophy walking well into their teens and no boy with Duchenne dystrophy should be using a wheelchair by age ten. I still get e-mails from parents saying their ten-year-old boy is already in a wheelchair. We can do better than this. 

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