SCN9A

Clinical Characteristics

Individuals with SCN9A congenital pain insensitivity have a complete inability to experience pain but this will rarely be obvious in the first few months of life. In early childhood patients will bite their lips, tongue and fingers or parents while holding them. Immunisations are painless, but they may still cry if irritated. All other senses are normal i.e. touch, warm and cold temperatures, proprioception, tickle and pressure perception. Patients have normal intelligence, normal motor development (occasionally they can be clumsy when first starting to walk and run). Multiple burns, bruises, cuts and bone fractures are frequently reported, and should be treated normally. The child should be educated about their condition and the parents/carriers should be informed after injuries (so that they can be assessed). Bladder, bowel and uterine pain are not perceived e.g. painless labour. Males tend to have accentuate male behaviours and so channelling of energies into swimming, martial arts, etc. is better than rugby, boxing, etc.