KMT2B

Management

Management of Dystonia

Dystonia-specific medications and levodopa trials have limited benefit in patients with KMT2B-dystonia. Published data suggests that Globus Pallidus Interna-Deep Brain Stimulation may be a clinically beneficial strategy for patients with KMT2B-related disease, and therefore should be considered early in the disease course.

Surveillance

Multidisciplinary team approach is needed:

  • Physiotherapy and occupational therapy
  • Speech and language therapy, especially if concerns with regards swallowing and/or aspiration pneumonia
  • Dietician, to optimise nutrition; PEG feeding may be needed due to risk of aspiration and impaired swallowing
  • Developmental assessment and regular monitoring
  • Hearing assessment
  • Ophthalmology assessment
  • Regular hip and spine monitoring
  • Dermatology assessment
  • Psychology/psychiatry assessments
  • Respiratory surveillance, if risk of aspiration pneumonia due to impaired swallowing.