Living with Torsion dystonia 6
A genetic movement condition with muscle twisting and tightening, often starting in the head and neck.
Understanding Torsion dystonia 6
It can appear from childhood through adulthood, with an average start at age 18. It usually first affects muscles of the head and neck, causing trouble speaking and eating. Eyelid twitching may occur, and limbs are often involved. It gradually worsens and may involve most of the body.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dystonia (twisting, tightening muscle movements)
- Trouble speaking clearly (dysarthria)
- Dystonia that spreads across the body
- Eyelid twitching (blepharospasm)
- Voice box dystonia
- Dystonia in the limbs
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 THAP1 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
This condition is caused by changes in the THAP1 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: dystonia 6; dyt-thap1; dyt6; generalised cervical and upper-limb-onset dystonia; generalised isolated dystonia caused by mutation in thap1; generalized cervical and upper-limb-onset dystonia
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 Torsion dystonia 6.
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