Disease Information for Pain, indifference, congenital

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Clinical Manifestations
Signs & Symptoms
Anesthetic hypesthetic limbs/areas
High pain threshold
High pain threshold/infant
Indifference to pain
Lip biting
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications
Anhydrosis/Absent sweating/diffuse
Autoamputation of digit
Charcot neuroarthropathic joint
Pain, congenital indifference
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 2q24.3
Pathophysiology/Gene SCN9A Sodium channel
Process
PROCESS/Functional/physiologic (category)
PROCESS/Vegetative-Autonomic/Endocrine (category)
PROCESS/Congenital CNS disorder (ex)
Synonyms
Synonym
ANALGESIA CONGEN, Analgesia Congenital, Asymbolia, CONGEN ANALGESIA, CONGEN PAIN INSENSITIVITY, Congenital Analgesia, Congenital Indifference to Pain, Congenital indifference to pain (finding), Congenital pain asymbolia, Congenital Pain Indifference, Congenital Pain Indifferences, Congenital Pain Insensitivity, INSENSITIVITY CONGEN PAIN, Insensitivity Congenital Pain, PAIN INDIFFERENCE CONGEN, PAIN INDIFFERENCE CONGENITAL, PAIN INSENSITIVITY CONGEN, Pain Insensitivity Congenital, Synonym/Asymbolia for Pain, Congenital, Synonym/Congenital Analgesia, Recessive, Synonym/Indifference to Pain, Autosomal Recessive, Synonym/Insensitivity to Pain, Channelopathy Assn
Definition

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE;

INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED;

CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; ASYMBOLIA FOR PAIN; Gene map locus 2q24; autosomal recessive congenital indifference to pain can be caused by loss-of-function mutations in the SCN9A gene Autosomal dominant primary erythermalgia is caused by gain-of-function mutations in the same gene; there is a possible autosomal dominant form of congenital indifference to pain;

Many cases reported as congenital indifference to pain or congenital analgesia were reported before the development of methods to assess the physiologic function of nerve fibers; Cox suggested that congenital indifference to pain due to mutations in the SCN9A gene is actually a form of insensitivity to pain since the defect is due to a channelopathy that is not normally detected by routine histopathology; The authors proposed the term "channelopathy-associated insensitivity to pain" for the disorder described here; Individuals with congenital indifference to pain have painless injuries beginning in infancy but otherwise normal sensory modalities; Perception of passive movement, joint position, and vibration are normal, as are tactile thresholds and light touch perception; Reflexes and autonomic responses are also normal; The axonal flare response after intradermal injection of histamine is normal, a finding that is in contrast to HSAN; Cases from consanguineous parents, and parental consanguinity has been noted in other cases suggesting autosomal recessive inheritance;

Gilly et al (1964) described 2 affected sibs who were born of normal parents and were of normal intelligence; Osuntokun et al (1968) described brother and half sister with congenital indifference to pain, who presumably had different fathers, both normal; They referred to the condition as "pain asymbolia" and noted the association of auditory imperception; Cox et al (2006) described individuals from 3 Pakistani families with congenital inability to perceive any form of pain, in whom all other sensory modalities were preserved and the peripheral and central nervous systems were apparently otherwise intact; The trait was segregating as an autosomal recessive in the family; All affected individuals had injuries to their lips (some requiring plastic surgery) and/or tongue (with loss the distal third in 2 cases), caused by biting themselves in the first 4 years of life; The children were considered of normal intelligence by their parents and teachers; All could correctly perceive sensations of touch, warm and cold temperature, propioception, tickle and pressure, but not painful stimuli; MAPPING: In 3 northern Pakistani families segregating autosomal recessive "channelopathy-associated insensitivity to pain," Cox et al (2006) mapped the trait to 2q24_3, a region containing the SCN9A gene, which encodes the alpha subunit of the voltage-gated sodium channel, Nav1_7

MOLECULAR GENETICS: By sequence analysis of the SCN9A gene in 3 northern Pakistani families segregating autosomal recessive "channelopathy-associated insensitivity to pain,"

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