Congenital Insensitivity to Pain with Anhidrosis

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A neurologic disorder characterised by impaired nociception with intact cognition and sensation including discriminative touch. While these patients may be mildly retarded, there are no detectable physical abnormalities. Children with CIPA often bite their tongues, suffer corneal damage and may be unaware of fractures
Aetiology Some cases are due to excessive endophin production for which naloxone may be effective. In others, one of several loss-of-function mutations have been identified in the voltage-gated sodium channel SCN9A, preventing forward propagation of nociceptive information to the brain. While it is very rare, CIPA is more common in consanguineous populations including one cohort in northern Sweden and another in Ashkenazi Jews
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Further provided are therapeutic methods for treating disease states including, but not limited to, chronic pain syndromes, congenital pain insensitivity, inflammation, ischemia, host defense dysfunction, immune surveillance dysfunction, arthritis, multiple sclerosis, autoimmunity, immune dysfunction, and allergy.

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