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Misdiagnosis in Neuromuscular Disorders

Posted Jan 29 2011 1:12pm

I recently had an e-mail  from a mother asking for information about her child who had been diagnosed as having Charcot-Marie-Tooth disease. The mother siad that it was "a form of muscular dystrophy." I can't imagine how the mother was led to believe that Charcot-Marie-Tooth disease (CMT) had any relationship at all to muscular dystrophy. One is a disorder of the nervous system and the other has basic problems with the muscles. The United States is far behind many other countries in the diagnosis and treatment of neuromuscular disorders. I still find the term "Benign Congenital Hypotonia" or "Benign Hypotonia" being given as a diagnosis even from major medical centers and in the medical literature.  

Few neurology residency programs stress neuromuscular disorders and few pathologists have training in diagnosing these disorders. The diagnosis of Benign Hypotonia has not been  accurate since the 1960's. Dr. John Walton, who is now Lord Walton, was the first to realize that this diagnosis was composed of several disorders. Now many of these can be diagnosed by specific tests and muscle biopsy preparations. One of the reasons that I closed the Center for Handicapped Children in San Francisco seven years ago was that I was having to send the muscle from a muscle biopsy to Professor Sewry in England. She is the world's expert in the pathology of muscle biopsies and her lab does the most up-to-date prepartions. I could have sent it to the Mayo Clinic but the expense would have been hard for our non-profit Center to cover. There are several disorders that are now recognized in what formerly was called Benign Hypotonia. These are spinal atrophy and the congenital myopathies. The latter group includes minicore disease, myotubular myopathy, nemaline rod myopathy and some others.

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