title: Physiological characterization of neuropathy in Fabry's disease.
abstract: Fabry's disease is commonly associated with a painful, debilitating neuropathy. Characterization of the physiological abnormalities is an important step in evaluating response to specific therapies. Twenty-two patients with Fabry's disease, and with relatively preserved renal function, underwent conventional and near-nerve conduction studies, electromyography, sympathetic skin responses, and quantitative sensory testing (QST). Nerve conduction studies were mostly normal except for an increased frequency of median nerve entrapment at the wrist in 6 (27%) patients. Sympathetic skin responses were preserved in 19 of 20 (95%) of the patients. The QST showed increased or immeasurable cold and warm detection thresholds in patients, significantly different from controls (n = 28) in the hand (P < 0.001, P = 0.04, respectively) and foot (P < 0.001 for both). Cold thresholds were more often abnormal than were warm thresholds. Vibration thresholds were normal in the feet and, in some patients, elevated in the hand only, probably due to frequent median nerve entrapment at the wrist. Our findings suggest that the neuropathy of Fabry's disease is characterized by an increased prevalence of median nerve entrapment at the wrist and by thermal afferent fiber dysfunction in a length-dependent fashion, with greater impairment of cold than warm sensation.
authors.affiliation: Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg. 10, Rm 3D03, 9000 Rockville Pike, Bethesda, Maryland 20892-1260, USA. cluciano@rcm.upr.edu
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Luciano
authors.forename: James W
authors.initials: JW
authors.lastname: Russell
authors.forename: Tapas K
authors.initials: TK
authors.lastname: Banerjee
authors.forename: Jane M
authors.initials: JM
authors.lastname: Quirk
authors.forename: Leland J C
authors.initials: LJ
authors.lastname: Scott
authors.forename: James M
authors.initials: JM
authors.lastname: Dambrosia
authors.forename: Norman W
authors.initials: NW
authors.lastname: Barton
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008465:Mechanoreceptors / Q000502:physiology; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000502:physiology; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D012684:Sensory Thresholds / Q000502:physiology; D017779:Sympathetic Fibers, Postganglionic / Q000473:pathology / Q000503:physiopathology; D013697:Thermosensing / Q000502:physiology