PRUNE1

Management

If your patient receives a diagnosis of NMIHBA, the following evaluations are recommended:

  • Comprehensive neurological evaluation including EEG for seizures and brain MRI for brain abnormalities.
  • Evaluation of deep tendon reflexes (DTRs) and nerve conduction velocities (NCVs) studies suggested to diagnose early peripheral neuropathy.
  • Comprehensive developmental assessment including gross and fine motor skills and language evaluation.
  • Consultation with a clinical geneticist and/or genetic counsellor.