Living with Autosomal recessive early-onset Parkinson disease 6
An inherited form of Parkinson disease that often starts in the early-to-mid 30s.
Understanding Autosomal recessive early-onset Parkinson disease 6
It often begins in the early-to-mid 30s and slowly gets worse. Symptoms include tremor, slow movement, muscle stiffness, and muscle contractions, much like other forms of Parkinson disease. For some people it also affects posture, reflexes, behavior, and mental health.
Signs & symptoms
GARD doesn't list a symptom list, but the summary describes these features:
- Tremor
- Slow movement
- Muscle stiffness
- Muscle contractions
- Changes in posture and reflexes (some people)
- Changes in behavior or mental health (some people)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
American Parkinson Disease Association, Dysautonomia International and Parkinson & Movement Disorder Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: American Parkinson Disease Association, Dysautonomia International, 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 American Parkinson Disease Association 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 PINK1 gene. It is autosomal recessive, which usually means two changed copies of the gene are needed, one from each parent. A small number of people have only one changed copy.
Also known as: park6; parkinson disease 6, early-onset; parkinson disease 6, modifier of; parkinson disease caused by mutation in pink1; pink1 parkinson disease; pink1 type of young-onset parkinson disease
Patient organizations
- American Parkinson Disease AssociationAutosomal recessive early-onset Parkinson disease 6 · United States
- Dysautonomia InternationalAutosomal recessive early-onset Parkinson disease 6 · United States
- Michael J. Fox Foundation for Parkinson's ResearchAutosomal recessive early-onset Parkinson disease 6 · United States
- Parkinson & Movement Disorder AllianceAutosomal recessive early-onset Parkinson disease 6 · United States
- Parkinson's FoundationAutosomal recessive early-onset Parkinson disease 6 · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive early-onset Parkinson disease 6.
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