TBC1D24

Management

All individuals with confirmed TBC1D24 variants should have a comprehensive evaluation at baseline including:

  • Audiology evaluation
  • Ophthalmology evaluation
  • Dental examination
  • Otolaryngology consultation
  • Echocardiogram
  • Renal ultrasound examination
  • Neurology consultation

Standard management includes hearing aids or cochlear implant for individuals with deafness and symptomatic pharmacologic management of seizures.

A specific treatment protocol is not available for TBC1D24-related disorders.