Living with Dystonia 12
A rare movement disorder with sudden-onset muscle tightening and parkinson-like symptoms, usually appearing in adolescence or young adulthood.
Understanding Dystonia 12
Dystonia means sustained, involuntary muscle contractions. Parkinsonism can include tremor, slow movement, stiffness, and trouble with balance. It can make it hard to walk, talk, and do daily tasks. Symptoms often begin in the face, then the arms, then the legs. They usually start in adolescence or young adulthood and can be triggered by infection, physical or emotional stress, or alcohol. Symptoms tend to level off within about a month.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tightening in the arms, legs, and face (dystonia)
- Slow movements (bradykinesia)
- Trouble with balance
- Trouble speaking (dysarthria)
- Trouble swallowing (dysphagia)
- Wry neck (torticollis)
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 ATP1A3 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 and Parkinson & Movement Disorder Alliance 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, Parkinson & Movement Disorder Alliance
- 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 ATP1A3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: atp1a3 dystonic disorder; dystonia type 12; dystonia-12; dystonic disorder caused by mutation in atp1a3; dyt-atp1a3; dyt12
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
- Parkinson & Movement Disorder AllianceParkinsonism · United States
You are more than your diagnosis
Perspectives from people navigating life with Dystonia 12.
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