Knowra Congenital insensitivity to pain with anhidrosis Congenital insensitivity to pain with anhidrosis Congenital insensitivity to pain with anhidrosis is a rare inherited sensory and autonomic disorder that prevents pain and temperature sensation and impairs sweating, risking repeated injuries and overheating.
NTRK1 : NTRK1 is a gene encoding the TrkA receptor, which supports development and survival of pain-sensing neurons. Most cases result from NTRK1 variants that disrupt signaling needed by pain and sweat-gland neurons.
Hereditary sensory and autonomic neuropathy : Hereditary sensory and autonomic neuropathies are inherited disorders affecting sensory and autonomic nerves. The disorder is classified as a severe, early-onset form within this broader group.
Hyperthermia : Hyperthermia is an abnormally elevated body temperature caused by heat production or exposure exceeding heat loss. Without sweating, affected children can overheat, especially during exertion or hot weather.
SCN9A : SCN9A is a gene encoding a sodium channel essential for signaling in many pain-sensing neurons. SCN9A variants can cause pain insensitivity without the characteristic loss of sweating.
Nerve growth factor : Nerve growth factor is a signaling protein that supports the growth and survival of particular sensory and sympathetic neurons. NTRK1 encodes its receptor, linking deficient growth-factor signaling to the disorder’s missing neurons.
Congenital insensitivity to pain : Congenital insensitivity to pain is a group of inherited conditions in which pain perception is absent or severely impaired from birth. This broader diagnosis includes forms that do not necessarily impair sweating.
Thermoregulation : Thermoregulation is the set of processes that keeps body temperature within a viable range. Impaired evaporative cooling makes active temperature monitoring and cooling measures necessary.
PRDM12 : PRDM12 is a gene that helps regulate development of pain-sensing neurons. PRDM12-related congenital pain insensitivity typically preserves sweating, unlike this disorder.
Nociceptor : A nociceptor is a sensory neuron that detects potentially tissue-damaging stimuli and initiates pain signaling. Loss or dysfunction of these neurons explains the inability to sense harmful stimuli.
Small fiber neuropathy : Small fiber neuropathy affects thin sensory and autonomic nerve fibers, which carry pain, temperature, and involuntary signals. The disorder’s deficits involve small fibers responsible for pain, temperature, and sweating.
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