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Charcot-Marie-Tooth Disease

L. William McLain Jr., MD
JAMA. 1974;229(7):767. doi:10.1001/jama.1974.03230450017014.
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To the Editor.—  Charcot-Marie-Tooth disease has traditionally been regarded as a pure neuropathic disease, and Siegel (228:873, 1974) suggested that the myopathic changes in two brothers with this disease could be caused by the neuropathy, in accordance with the "neurogenic hypothesis" of muscle disease. Myopathic changes in Charcot-Marie-Tooth disease have already been very well documented by Haase and Shy,1 who reported them in biopsy specimens of 12 of 17 patients. Ten of these showed both myopathic and neuropathic changes, and two showed only myopathic changes. This finding of myopathic changes in neuropathic diseases (as well as the opposite) has been used to support the neurogenic hypothesis. The a priori assumption is made that the disease in question, eg, Charcot-Marie-Tooth disease, is purely neuropathic; hence, any myopathic changes must be secondary.An alternative explanation, as Haase and Shy suggested, is that the disease process, whatever it is, affects both nerve


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