Living with Torsion dystonia 2
A rare genetic movement condition that starts in childhood with muscle tightening that twists hands and feet.
Understanding Torsion dystonia 2
It causes unusual postures in a part of the body and starts in childhood. It slowly worsens and may spread to more of the body, but GARD says it stays mild overall.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dystonia in the limbs
- Wry neck (torticollis)
- Eyelid spasm (blepharospasm)
- Trouble speaking clearly (dysarthria)
- Tremor and involuntary movements
- Walking problems and feeding difficulties
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 HPCA 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 HPCA gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive torsion dystonia 2; dystonic disorder caused by mutation in hpca; dyt2; hpca dystonic disorder; primary dystonia dyt2 type; primary dystonia type 2
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 2.
Explore research for Torsion dystonia 2
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