Living with Dystonia 16
A genetic movement disorder with muscle tightening and twisting that usually begins in childhood and slowly spreads.
Understanding Dystonia 16
It can start at any age but most often begins in childhood. It usually affects an arm or leg first, or neck muscles. The jaw, lips, tongue, and voice muscles are commonly affected, causing trouble with swallowing and speech. It slowly gets worse and spreads. Some people develop mild parkinsonism. GARD says symptoms usually do not improve with typical movement disorder medicines.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tightening in the limbs (limb dystonia)
- Wry neck (torticollis)
- Trouble speaking (dysarthria) or using the voice
- Trouble swallowing (dysphagia)
- Slow movements and tremor (parkinsonism)
- Unsteady walk
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 PRKRA 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 and Parkinson & Movement Disorder Alliance 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, Parkinson & Movement Disorder Alliance
- 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 and other patient organizations
- 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 PRKRA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dystonia type 16; dystonic disorder caused by mutation in prkra; dyt-prkra; dyt16; early-onset dystonia parkinsonism; prkra dystonic disorder
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
- Parkinson & Movement Disorder AllianceParkinsonism · United States
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Perspectives from people navigating life with Dystonia 16.
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