Living with Brain dopamine-serotonin vesicular transport disease
A rare genetic condition starting in infancy that affects movement, muscle tone, and body functions like blood pressure.
Understanding Brain dopamine-serotonin vesicular transport disease
It causes involuntary muscle contractions (dystonia), stiffness and tremors (parkinsonism), and trouble walking. It can also affect the autonomic nervous system, which controls body functions like blood pressure and body temperature. Children may have developmental delays and mood changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary muscle contractions (dystonia)
- Trouble walking
- Poor coordination (ataxia)
- Low muscle tone
- Delays in development
- Sleep problems and excessive sweating
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC18A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Dystonia Medical Research Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC18A2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: brain monoamine vesicular transport disease; parkinsonism-dystonia 2, infantile-onset; parkinsonism-dystonia, infantile, 2; pkdys2
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Brain dopamine-serotonin vesicular transport disease.
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