Living with SLC6A3-related dopamine transporter deficiency syndrome
A genetic movement disorder that can start in infancy or later, causing stiffness, tremor and slow movement.
Understanding SLC6A3-related dopamine transporter deficiency syndrome
In the classic form, babies are irritable with feeding trouble and low muscle tone, then develop abnormal movements. Over time, parkinsonism-dystonia sets in, with slow movement, tremor, stiffness and twisted postures. Many people keep good thinking skills. In the later-onset form, development is typical at first. ADHD may appear in childhood, followed by parkinsonism-dystonia.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Irritability and feeding trouble in infants
- Low muscle tone in the trunk
- Abnormal, uncontrolled movements
- Slow movement (bradykinesia)
- Tremor and stiffness
- Delayed motor development
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says this condition is related to the SLC6A3 gene. It doesn't describe how it is inherited in this record.
Also known as: dopamine transporter deficiency syndrome; dtds
Patient organizations
Rare-disease groups that can help
- 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 SLC6A3-related dopamine transporter deficiency syndrome.
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