Living with Dystonia 5
An inherited dystonia that usually begins in childhood with leg problems, and often responds to a medicine called L-Dopa.
Understanding Dystonia 5
In most cases, dystonia starts in the legs and slowly spreads to the arms. Features range from mild to severe. People may have unusual limb positions, poor coordination in walking or running, sleep problems, and episodes of depression. Many also develop parkinsonism. It is called dopa-responsive because symptoms often respond to dopamine medicine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tightening (dystonia)
- Slow movements (bradykinesia)
- Poor coordination
- Wry neck (torticollis)
- High arches in the feet (pes cavus)
- Parkinsonism that responds to dopamine medicine
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.
- 4Connect with expert centers
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Dystonia Medical Research 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
GARD says changes in the GCH1, TH, or SPR genes may cause it, or the cause may be unknown. It can be autosomal dominant (most commonly) or autosomal recessive.
Also known as: autosomal dominant dopa responsive dystonia; autosomal dominant segawa syndrome; dopa-responsive dystonia, autosomal dominant; drd; dystonia type 5; dystonia-parkinsonism with diurnal fluctuation
Patient organizations
- Dystonia Medical Research FoundationDystonia 5 · United States
- Pediatric Neurotransmitter Disease AssociationDystonia 5 · United States
You are more than your diagnosis
Perspectives from people navigating life with Dystonia 5.
Explore research for Dystonia 5
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- Eligibility is confirmed by the study team
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