Living with Autosomal recessive Parkinson disease 14
A rare inherited brain condition with Parkinson-like movement problems and memory and thinking changes, often starting before age 30.
Understanding Autosomal recessive Parkinson disease 14
It involves dystonia, which is muscle contractions that twist the body, and parkinsonism that responds to the medicine L-dopa. People can also have stiff muscles, overactive reflexes, and rapid decline in memory and thinking. Onset is listed as the teen years and adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Balance problems
- Muscle stiffness (rigidity) and dystonia
- Unclear speech (dysarthria)
- Dull, expressionless face
- Trouble swallowing (dysphagia)
- Dementia and brain shrinkage
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 PLA2G6 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
Parkinson & Movement Disorder Alliance and 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: Parkinson & Movement Disorder Alliance, 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 Michael J. Fox Foundation for Parkinson's Research 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
It is caused by changes in the PLA2G6 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: adult-onset dystonia parkinsonism; adult-onset dystonia-parkinsonism; autosomal recessive parkinson disease type 14; dystonia parkinsonism paisan-ruiz type; dystonia-parkinsonism adult-onset; dystonia-parkinsonism, adult-onset
Patient organizations
- Michael J. Fox Foundation for Parkinson's ResearchAutosomal recessive Parkinson disease 14 · United States
- Parkinson & Movement Disorder AllianceAutosomal recessive Parkinson disease 14 · United States
- Dystonia Medical Research FoundationDystonia · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive Parkinson disease 14.
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