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May 13, 1974

Charcot-Marie-Tooth Disease: A Diagnostic Problem

Author Affiliations

From the Louis A. Weiss Memorial Hospital, University of Illinois, and the Strauss Surgical Group Association, Chicago.

JAMA. 1974;228(7):873. doi:10.1001/jama.1974.03230320043030

IT HAS been suggested that the primary abnormality in muscular dystrophy lies not in the muscle but in the motor neuron on whose trophic factor the function and survival of muscle fibers depend.1

This "neurogenic hypothesis"2 might explain those confusing neuropathic electromyographic responses seen in some cases of myopathy, as well as perplexing elevations of serum muscle enzyme levels found in certain neuropathic states.

Diagnosis, and thus prognosis, is confounded when a patient shows the features of both neuropathic and myopathic disease. The following examples illustrate this problem.

Report of Cases  Two brothers, aged 31 and 32 years, of Appalachian extraction, had similar complaints. The elder noted progressive weakness for seven years in his arms and legs. His birth and developmental history were normal. He was athletically active until the onset of symptoms. Two younger sisters were living and well. His two sons, aged 7 and 8 years, and