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Living with Autosomal recessive DOPA responsive dystonia

An inherited nerve condition, also called tyrosine hydroxylase deficiency, that affects movement and starts in infancy.

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Understanding Autosomal recessive DOPA responsive dystonia

Autosomal recessive DOPA responsive dystonia, also called tyrosine hydroxylase (TH) deficiency, is a rare inherited condition that affects the nervous system.

There are three forms that differ in how severe they are. The two severe forms, infantile parkinsonism and progressive infantile encephalopathy, often start soon after birth or in early infancy. Features can include low muscle tone, trouble feeding, irritability, and movement problems.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Low muscle tone (hypotonia)
  • Dystonia (muscle contractions that twist the body)
  • Slowed movement (hypokinesia)
  • Feeding difficulties
  • Drooping upper eyelids (ptosis)
  • Delayed speech and language

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in TH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect 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 Pediatric Neurotransmitter Disease Association 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
Bring these questions to your next doctor visit
Can genetic testing for the TH gene confirm the diagnosis?
Which form of TH deficiency does my child have?
Which specialists should follow movement and development?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesTH

It is caused by changes in the TH gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

GeneticNeurologicalInherited Metabolic

Also known as: autosomal recessive dopa-responsive dystonia; autosomal recessive infantile parkinsonism; dopa-responsive dystonia, autosomal recessive; dyt-th; dyt5b; segawa syndrome, autosomal recessive

Patient organizations

Source: NIH GARD · Autosomal recessive DOPA responsive dystoniaGARD ID 1902 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Autosomal recessive DOPA responsive dystonia.

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