Living with Torsion dystonia 17
A rare genetic movement condition that often starts with a twisted neck and may later spread to other areas.
Understanding Torsion dystonia 17
It first shows up as a twisted neck (torticollis) and later may spread to nearby areas or the whole body. Voice and speech problems also occur later. It usually starts in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wry neck (torticollis)
- Dystonia in the face muscles
- Dystonia that spreads across the body
- Voice problems (dysphonia)
- Trouble speaking clearly (dysarthria)
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
GARD says changes in genes (variants) cause this condition and that it is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: dystonia 17, torsion, autosomal recessive; dystonia-17, primary torsion; primary dystonia, dyt17 type; torsion dystonia type 17
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 17.
Explore research for Torsion dystonia 17
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