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VMAT2 (SLC18A2) deficiency
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
General
genetic disease of the nervous system
References
- Rilstone JJ et al.
Brain dopamine-serotonin vesicular transport disease and its
treatment.
N Engl J Med 2013