channelopathy-associated insensitivity to pain; autosomal recessive congenital indifference to pain
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Pathology
- inability to sense painful stimuli
- no evidence of a motor or sensory neuropathy, either axonal or demyelinating
Genetics
- autosomal recessive
- associated with defects in SCN9A
Clinical manifestations
- congenital inability to perceive any form of pain, in any part of the body
- all other sensory modalities are preserved & the peripheral & central nervous systems are apparently intact
- patients perceive the sensations of touch, warm & cold temperature, proprioception, tickle & pressure, but not painful stimuli