Living with Torsion dystonia 4
A rare genetic movement condition that mainly affects the voice box and neck muscles, starting in the teens or adulthood.
Understanding Torsion dystonia 4
It leads to a whispering voice (whispering dysphonia) and a twisted neck (torticollis). It usually starts in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Whispering voice (dysphonia)
- Dystonia in the voice box (laryngeal dystonia)
- Wry neck (torticollis)
- Dystonia that spreads across the body
- Walking problems
- Tongue movement problems
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 TUBB4A 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 TUBB4A gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: dystonia musculorum deformans 4; dyt4; hereditary whispering dysphonia; primary dystonia, dyt4 type; torsion dystonia type 4; whispering dysphonia
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 4.
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