VMAT2 (SLC18A2) deficiency
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Genetics
- autosomal recessive
- associated with defects in VMAT2 (SLC18A2)
Clinical manifestations
- delayed ambulation or failure to ambulate
- developmental delay
- parkinsonism
- dystonia
- oculogyric crises
- mood disorder
- autonomic instability
Management
- pramipexole may allow non-ambulatory children to walk
- levodopa worsens the condition
More general terms
References
- ↑ Rilstone JJ et al. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med 2013