Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. 2000

M J Hilz, and F B Axelrod
Department of Neurology, New York University Medical Center, New York 10016, USA.

Familial dysautonomia (FD) is an inherited disorder that is known to affect both sensory and autonomic functions as a result of incomplete neuronal development and progressive loss but the degree to which patients are affected differs greatly. To determine if quantitative vibration and thermal testing refined the assessment of severity, 23 familial dysautonomia patients were evaluated by clinical examination, measurements of median, peroneal and sural nerve conduction velocities (NCV), and assessment of vibration thresholds at two body sites and of warm and cold perception thresholds at 6 body sites using the method of limits. Data from 80 age-matched normal individuals provided control data for vibration and temperature thresholds. All familial dysautonomia patients had abnormal thermal thresholds. Vibration perception was abnormal in 20 patients. NCVs were slowed in 8 of 16 patients who agreed to be tested. Abnormalities in thermal thresholds are consistent with the reduction of small nerve fibers in familial dysautonomia Abnormal vibration thresholds might be due to disturbed conduction of vibratory impulse trains and reflect the degree to which the disorder is progressive. Vibration and thermal sensation testing were better accepted and provided more information than NCV regarding severity of disease.

UI MeSH Term Description Entries
D008297 Male Males
D009431 Neural Conduction The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus. Nerve Conduction,Conduction, Nerve,Conduction, Neural,Conductions, Nerve,Conductions, Neural,Nerve Conductions,Neural Conductions
D010465 Perception The process by which the nature and meaning of sensory stimuli are recognized and interpreted. Sensory Processing,Processing, Sensory
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004402 Dysautonomia, Familial An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) HSAN Type III,Hereditary-Sensory and Autonomic Neuropathy Type III,Neuropathy, Hereditary and Autonomic, Type III,Riley-Day Syndrome,Dominant Hereditary Sensory Neuropathy, Type III,Familial Dysautonomia,HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III,HSAN 3,HSAN III,HSAN3,HSN-III,Hereditary Sensory Neuropathy Type 3,Hereditary Sensory Neuropathy, Dominant, Type 3,Hereditary Sensory Neuropathy, Dominant, Type III,Hereditary Sensory Neuropathy, Type 3, Dominant,Hereditary Sensory and Autonomic Neuropathy 3,Neuropathy, Hereditary Sensory And Autonomic, Type III,Type 3 Hereditary Sensory Neuropathy, Dominant,Type III Hereditary Sensory Neuropathy, Dominant,Hereditary Sensory and Autonomic Neuropathy Type III,Riley Day Syndrome
D005260 Female Females
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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