hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 6An autosomal recessive condition (OMIM:61465) characterised by degeneration of dorsal root and autonomic ganglion cells, and sensory and/or autonomic defects of neonatal onset. Infants are hypotonic, with respiratory and feeding difficulties, poor psychomotor development, and autonomic defects including cardiovascular lability; lack of corneal reflexes, leading to corneal scarring; areflexia; and absent axonal flare response to intradermal histamine injection.
Defects of DST, which encodes dystonin, a cytoskeletal linker protein that integrates intermediate filaments, actin and microtubule cytoskeleton networks, cause hereditary sensory and autonomic neuropathy type 6.
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