Knowra Congenital insensitivity to pain Congenital insensitivity to pain Congenital insensitivity to pain is a group of inherited disorders that prevent pain perception from birth. Depending on the cause, it may also affect temperature sensation, sweating, or other autonomic functions.
Nociceptor : A sensory neuron or nerve ending that detects potentially tissue-damaging stimuli. Some forms impair the development or function of the neurons that normally detect harmful stimuli.
Congenital insensitivity to pain with anhidrosis : An inherited disorder marked by absent pain perception and reduced or absent sweating. This NTRK1-related form combines injury risk with danger from impaired temperature regulation.
Self-injury : Deliberate or inadvertent damage a person causes to their own body. Unnoticed biting or repeated trauma can damage the tongue, lips, fingers, or eyes.
Genetic testing : Analysis of DNA to identify variants associated with inherited traits or disorders. Testing can distinguish causes such as NTRK1, SCN9A, PRDM12, and NGF variants.
Hereditary sensory and autonomic neuropathy : A group of inherited disorders affecting sensory nerves and, in some types, autonomic nerves. Congenital pain insensitivity belongs to this broader family of neuropathies.
Nerve growth factor : A protein that supports the survival and development of certain sensory and sympathetic neurons. NGF pathway defects can prevent pain-sensing neurons from developing normally.
Hereditary sensory and autonomic neuropathy type II : An inherited neuropathy causing severe sensory loss, often beginning in infancy or childhood. It illustrates a broader neuropathy in which pain loss accompanies other sensory deficits.
Charcot joint : Progressive joint damage caused by loss of protective sensation and repeated unrecognized trauma. Without pain as a warning, joints can sustain repeated injuries and deteriorate.
Neurological examination : A clinical assessment of sensory, motor, reflex, and cranial nerve function. Testing pain, temperature, touch, and reflexes helps characterize the sensory deficit.
Congenital analgesia : The absence of pain perception from birth, whether inherited or due to another congenital cause. The term overlaps with inherited pain insensitivity but can describe a broader clinical finding.
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