Also known as: Parkinsonism-dystonia 2, infantile-onset
– OMIM#618049 https://omim.org/entry/618049
1. The disease:
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
2. The symptoms:
Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation. Lack of early signs or symptoms does not exclude the diagnosis.
Motor development is delayed, and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis, and postural hypotension.
Symptoms show no diurnal variation and do not improve with vitamin B12 or folinic acid intake and worsened after administration of L-dopa.
3. Actions to take in case of early diagnosis:
- Laboratorial evaluation can be done as the analysis of neurotransmitters or measurement of monoamine metabolites in the CSF, even though it was not altered in the first described patients.
- BDSVTD is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.
- Oral treatment with a direct dopamine-receptor agonist as pramipexole improves dystonia, parkinsonism, cognitive and motor skills with better outcomes as earlier as it is given.
- Agents/circumstances to avoid: treatment with levodopa-carbidopa seems to worsen dystonia and leads to major deterioration.
- Genetic counselling should be offered to at-risk family members.
4. For more information:
Biblio : Rilstone JJ, Alkhater RA, Minassian BA. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med. 2013;368(6):543-550. PMID: 23363473.