Living with Dystonia 27
A rare inherited dystonia that can affect the face, neck, hands, voice box, or trunk, starting from childhood to early adulthood.
Understanding Dystonia 27
It is a focal or segmental dystonia, meaning it affects one body area or a few nearby ones. A common sign is writing dystonia (writer's cramp). The dystonia may be tremulous, causing head or hand tremor. It begins between childhood and early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Writer's cramp
- Tremor when moving (action tremor)
- Tremor when holding a posture
- Jaw and mouth dystonia (oromandibular)
- Voice box (laryngeal) dystonia
- Dystonia in the limbs or trunk
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 COL6A3 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
GARD says changes in the COL6A3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: col6a3 dystonic disorder; dystonia type 27; dystonic disorder caused by mutation in col6a3; dyt27; primary dystonia dyt27 type; primary dystonia type 27
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 Dystonia 27.
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