En autosomal sjukdom i det perifera och autonoma nervsystemet, begränsad till individer av judisk Ashkenazehärkomst. Kliniska yttringar ses redan vid födseln och omfattar minskat tårflöde, defekt kroppstemperaturreglering, lågt ortostatiskt blodtryck, fasta pupiller, onormalt kraftig svettning, avsaknad av smärt- och temperaturkänslighet, samt avsaknad av reflexer. Patologiska särdrag är bl a minskat antal smala, perifera nervtrådar och autonoma ganglienervceller.
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)
Riley-Days syndrom — Dysautonomi, familjär — Ärftlig dysautonomi
Type III Hereditary Sensory Neuropathy, Dominant — Hereditary Sensory Neuropathy Type 3 — Hereditary Sensory and Autonomic Neuropathy 3 — HSAN III — Familial Dysautonomia — HSAN3 — HSN-III — Neuropathy, Hereditary Sensory And Autonomic, Type III — HSAN Type III — Riley-Day Syndrome — Riley Day Syndrome — Hereditary-Sensory and Autonomic Neuropathy Type III — Hereditary Sensory and Autonomic Neuropathy Type III — Neuropathy, Hereditary and Autonomic, Type III — Dominant Hereditary Sensory Neuropathy, Type III — Hereditary Sensory Neuropathy, Dominant, Type 3 — Hereditary Sensory Neuropathy, Dominant, Type III — Hereditary Sensory Neuropathy, Type 3, Dominant — HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III — Type 3 Hereditary Sensory Neuropathy, Dominant — HSAN 3