title: Neurophysiologic studies in congenital insensitivity to pain with anhidrosis.
abstract: Thirteen patients with congenital insensitivity to pain and anhidrosis, carrying a mutation at the TRK-A gene, were studied. Neurologic examination revealed vestigial pain sensitivity, suggesting an incomplete involvement of the affected nerves. All 13 patients manifested normal electrophysiologic studies but striking absence of sympathetic skin responses. We suggest the use of the sympathetic skin response test in the clinical evaluation of patients suspected of having congenital insensitivity to pain and anhidrosis.
authors.affiliation: Pediatric Division, Soroka Medical Center and the Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.
authors.forename: Z
authors.initials: Z
authors.lastname: Shorer
authors.forename: S W
authors.initials: SW
authors.lastname: Moses
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: V
authors.initials: V
authors.lastname: Pinsk
authors.forename: J
authors.initials: J
authors.lastname: Levy
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009460:Neurologic Examination; D017288:Pain Threshold / Q000502:physiology; D020917:Receptor, trkA / Q000235:genetics; D012867:Skin / Q000294:innervation; D013564:Sympathetic Nervous System / Q000503:physiopathology
chemical_list: D020917:Receptor, trkA