Living with Tyrosine hydroxylase deficiency
A genetic condition that mainly affects movement, from mild leg stiffness in childhood to more severe forms in infancy.
Understanding Tyrosine hydroxylase deficiency
In the mild form (dopa-responsive dystonia), symptoms start in childhood, with trouble walking and running, falls, toe walking, and muscle stiffness. They can worsen later in the day, and GARD says they almost always get better with treatment. The more severe forms start soon after birth and are harder to treat. They bring delayed motor skills, stiff muscles, slow movements, and tremors.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes these features:
- Trouble walking and running
- Walking on toes from leg stiffness
- Involuntary muscle tightening (dystonia)
- Tremor when holding a position
- Upward eye-rolling movements
- Delayed motor skills in the severe forms
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 the condition involves too little of the enzyme tyrosine hydroxylase. It doesn't name a gene or inheritance pattern in this record.
Also known as: autosomal recessive segawa syndrome; th deficiency; tyrosine 3-monooxygenase deficiency; tyrosine hydroxylase deficient dopa responsive dystonia
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 Tyrosine hydroxylase deficiency.
Explore research for Tyrosine hydroxylase deficiency
Explore actively recruiting Tyrosine hydroxylase deficiency studies with HealthSpark.
Find actively recruiting studies for Tyrosine hydroxylase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tyrosine hydroxylase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tyrosine hydroxylase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tyrosine hydroxylase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.