Living with Dystonia 9
A rare inherited condition with episodes of sudden, involuntary movements brought on by exercise or stress, starting in childhood.
Understanding Dystonia 9
Episodes are triggered mainly by sudden movement, long exercise, anxiety, and emotional stress. They last from a few minutes to hours and are relieved by rest. They may happen daily or only yearly, and tend to become less frequent with age. Other features can include stiff legs in adulthood, unsteady walking, mild to moderate thinking difficulties, and seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Episodes of twisting, writhing movements
- Muscle tightening (dystonia)
- Episodic unsteadiness (ataxia)
- Trouble speaking (dysarthria)
- Double vision
- Stiff legs (spastic paraplegia)
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.
- 3Consider genetic testing
Changes in SLC2A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect 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 Dystonia Medical Research Foundation
- 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 SLC2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: choreoathetosis, kinesigenic, with episodic ataxia and spasticity; dystonia type 9; dyt9; episodic choreoathetosis/spasticity; paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- 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 Dystonia 9.
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