SCN9A

Management

No consensus treatment or surveillance guidelines have been developed yet.

Treatment is supportive and is best provided by specialists in pediatrics, orthopedics, dentistry, ophthalmology, and dermatology, actively rather than awaiting injuries. Provide parents with a letter stating the diagnosis and that the child does not feel pain and will not react to injury, examination or investigations as if they had a painful disorder, i.e. pressing to elicit pain is of no use.

The child may be regarded as clumsy/ataxic/delayed in development aged 2-4 years, because they bump into objects and walk heavily – this all rectifies with age and contact with peers.

Symptom management approaches that should be considered are:

  • Dental and oral lesions: Tooth extraction and/or filing (smoothing) of sharp incisal use of a mouth guard.
  • Bone fractures: Standard treatment, but with emphasis on careful follow up and maybe prolonged plaster/immobilisation to reduce risk of aberrant healing and Charcot’s joints developing.
  • Bone and joint deformity: Corrective osteotomy. Prolonged and intensive monitoring is necessary to avoid deformity or incomplete healing.
  • Corneal scarring and clouding: Regular ophthalmic review. Use lubricating eye drops or ointments, and avoid known irritants such as peeling onions. These people have congenital corneal aneasthesia.
  • Immune system: Infections occur and heal normally, but will not be reported as painful, making correct and adequate diagnosis important.