Overview
Infantile dystonia-parkinsonism is an extremely rare neurological disorder that affects movement and muscle control in babies and young children. It is also known as infantile-onset dopamine transporter deficiency syndrome or SLC6A3-related dystonia-parkinsonism. The condition is caused by problems with the dopamine transporter in the brain, which is responsible for recycling dopamine — a chemical messenger that helps control movement. When this transporter does not work properly, dopamine signaling becomes disrupted, leading to severe movement problems. Symptoms typically begin in infancy and include involuntary muscle contractions (dystonia), stiffness, tremor, slow movements similar to Parkinson's disease, and difficulty with voluntary movements. Babies may have trouble feeding, show irritability, and fail to reach normal developmental milestones like sitting, crawling, or walking. The condition tends to be progressive, meaning symptoms worsen over time. Treatment is mainly supportive and aimed at managing symptoms, as there is currently no cure. Medications used in Parkinson's disease are often tried but typically have limited benefit in this condition. Physical therapy, occupational therapy, and nutritional support are important parts of care. Research is ongoing to find more effective treatments for this devastating disorder.
Also known as:
Key symptoms:
Involuntary muscle contractions and abnormal postures (dystonia)Slow movements and stiffness similar to Parkinson's diseaseTremor or shakingDifficulty feeding as a babyIrritability and fussinessFailure to reach movement milestones like sitting or walkingAbnormal eye movementsPoor muscle tone in early infancy that later becomes stiffnessDifficulty with speech developmentInvoluntary writhing movementsEpisodes of worsening symptoms during illness or stressDifficulty swallowingIntellectual disability in some cases
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
4 eventsQueen Mary University of London — NA
Institut Investigacio Sanitaria Pere Virgili
Nova Southeastern University — NA
Massachusetts General Hospital — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Infantile dystonia-parkinsonism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Infantile dystonia-parkinsonism at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Infantile dystonia-parkinsonism.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Infantile dystonia-parkinsonism.
Community
No community posts yet. Be the first to share your experience with Infantile dystonia-parkinsonism.
Start the conversation →Latest news about Infantile dystonia-parkinsonism
Disease timeline:
New recruiting trial: Efficacy of a Breathwork Practice (SKY) on Well-Being of Individuals With Parkinson's Disease (iPD) and Care Partners
A new clinical trial is recruiting patients for Infantile dystonia-parkinsonism
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has genetic testing confirmed the diagnosis, and should other family members be tested?,What therapies (physical, occupational, speech) should we start and how often?,Are there any medications that might help manage my child's symptoms?,What are the warning signs that we should go to the emergency room?,Is my child at risk for feeding or breathing complications, and how do we prepare?,Are there any clinical trials or research studies we could participate in?,What is the expected course of this condition for my child specifically?
Common questions about Infantile dystonia-parkinsonism
What is Infantile dystonia-parkinsonism?
Infantile dystonia-parkinsonism is an extremely rare neurological disorder that affects movement and muscle control in babies and young children. It is also known as infantile-onset dopamine transporter deficiency syndrome or SLC6A3-related dystonia-parkinsonism. The condition is caused by problems with the dopamine transporter in the brain, which is responsible for recycling dopamine — a chemical messenger that helps control movement. When this transporter does not work properly, dopamine signaling becomes disrupted, leading to severe movement problems. Symptoms typically begin in infancy an
How is Infantile dystonia-parkinsonism inherited?
Infantile dystonia-parkinsonism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile dystonia-parkinsonism typically begin?
Typical onset of Infantile dystonia-parkinsonism is infantile. Age of onset can vary across affected individuals.