Abstract

Four patients with Charcot-Marie-Tooth disease (CMT) and five healthy subjects underwent studies of temperature regulation, circulation, sweat production, lacrimation, and pupillary responsiveness.

Compared to controls, CMT patients exhibited the following: (1) a pattern of skin temperature regulation independent of body temperature; (2) an abnormal orthostatic adaptation test; (3) impaired sweating in the lower extremities; (4) low tear production but marked increase following administration of neostigmine methylsulfate or epinephrine; and (5) small pupils with no dilatation under dim light, no response to administration of cocaine, and attenuated response to administration of pilocarpine and homatropine. The data are consistent with impairment of the autonomic nervous system in CMT. The post-ganglionic sympathetic nerve fibers are preferentially involved.