Living with Parkinsonism-dystonia, infantile
A rare movement condition starting in infancy, with worsening muscle cramps, stiffness, and Parkinson-like symptoms.
Understanding Parkinsonism-dystonia, infantile
It causes dystonia (long-lasting, uncontrollable muscle contractions and cramps) and parkinsonism, which worsen over time. These make daily activities such as talking, eating, and walking hard. Some people may not have symptoms until childhood or later. Other symptoms can include abnormal eye movements, irritability, sleeping problems, and digestive problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dystonia (long muscle cramps)
- Parkinson-like symptoms (parkinsonism)
- Delays in development
- Trouble feeding
- Little or no speech
- Acid reflux and constipation
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Parkinson & Movement Disorder Alliance and 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: Parkinson & Movement Disorder Alliance, 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 DTDS Foundation and other patient organizations
- 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 SLC6A3 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: dopamine transporter deficiency syndrome; infantile dystonia parkinsonism; infantile dystonia-parkinsonism; infantile parkinsonism-dystonia; ipd; parkinsonism-dystonia infantile
Patient organizations
- DTDS FoundationParkinsonism-dystonia, infantile · United States
- Parkinson & Movement Disorder AllianceParkinsonism-dystonia, infantile · United States
- Pediatric Neurotransmitter Disease AssociationParkinsonism-dystonia, infantile · United States
- Dystonia Medical Research FoundationDystonia · United States
You are more than your diagnosis
Perspectives from people navigating life with Parkinsonism-dystonia, infantile.
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