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.