Living with Paroxysmal nonkinesigenic dyskinesia
A genetic nervous system condition with episodes of jerking, twisting, or writhing movements that you can't control.
Understanding Paroxysmal nonkinesigenic dyskinesia
Episodes can include irregular jerking or shaking movements, long muscle contractions, and writhing limb movements. Triggers may include alcohol, caffeine, stress, tiredness, periods, or excitement, or there may be no known trigger. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jerking or shaking movements
- Long muscle contractions (dystonia)
- Dance-like movements (chorea)
- Writhing limb movements
- Involuntary movements that come in episodes
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.
- 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
- 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
Changes in the PNKD gene cause the familial form of this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: familial paroxysmal choreoathetosis; mount-reback syndrome; paroxysmal non-kinesigenic dyskinesia; paroxystic non-kinesigenic choreoathetosis
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 Paroxysmal nonkinesigenic dyskinesia.
Explore research for Paroxysmal nonkinesigenic dyskinesia
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