I’m tested! Now what?

Glossary of Genetics and Parkinson’s Disease Terms

• Autosomal Recessive - A pattern of inheritance. You must inherit two copies of a mutated gene (one from each parent) to have the condition.

• Bradykinesia - Slowness of move-ment. A key sign of PD. Everyday tasks may take more effort.

• Carrier - A person with one mutated gene who usually has no symptoms, but can pass the gene to their children.

• Diagnosis - Identifying a medical condition based on symptoms, tests, and medical history.

• Dopamine - A brain chemical that helps regulate movement and mood. PD occurs when the brain stops making enough dopamine.

• Dyskinesia - Involuntary, dance-like movements. Often a side effect of long-term use of PD medication.

• Dystonia - Painful cramping and torsion of muscles and limbs. May be of a short or long duration.

• Freezing of Movement - When you suddenly feel like your feet are “stuck” and won’t move, though your brain is telling you to walk.

• Gene - A section of DNA that acts like an instruction manual for how your body works.

• Genetic Counselor - A healthcare professional who helps people understand genetic tests and what the results might mean for their health or family.

• Genetic Testing - A medical test that looks at your DNA to check for gene changes (mutations) that could impact your health.

• Heterozygous - Having one normal copy and one mutated copy of a gene. In many cases, this means you’re a carrier though you may not show symptoms.

• Homozygous - Having two identical gene mutations—one from each parent. This can lead to symptoms or a diagnosis.

• Levodopa (L-Dopa) - The most common PD medication. It helps replace dopamine, the brain chemical that controls movement. Sinemet is the most common form.

• Motor Symptoms - Movement-related symptoms like tremors, stiffness, and slowness.

• Movement Disorder Specialist - A doctor who specializes in conditions of the nervous system that affect movement—a specialized doctor for movement disorders like PD.

• Mutation / Gene Variant - A change in a gene. Some changes are harmless, while others may increase disease risk, or affect how your body works.

• Neurologist - A doctor who specializes in treating conditions that affect the brain and nervous system, including PD.

• Non-Motor Symptoms - Symptoms not related to movement, such as anxiety, depression, sleep issues, and digestion problems; and cognitive issues including memory, disorientation, and hallucinations.

• ON/OFF Episodes - When medication is working (“ON”), symptoms improve. When it wears off (“OFF”), symptoms return or worsen.

• PARKIN Gene (PRKN) - A gene linked to early-onset PD. If both copies are mutated, it could raise the risk of developing PD at a younger age.

• Parkinson's Disease - A condition that affects movement and can cause tremors, stiffness, slowness, and balance changes. PD can also affect learning, memory and executive function. It develops gradually over time.

• Postural Instability - Problems with balance that can increase the risk of falls, especially in later stages.

• Rigidity - Muscle stiffness that can make it harder to move freely.

• StrivePD App - An app available for iOS (currently not available for Android) that can be downloaded to an iPhone or Apple Watch. StrivePD tracks PD symptoms. Its user-friendly interface helps you understand your own condition. StrivePD data is shared with your neurologist so they have a more detailed record of your specific PD-related symptoms and behavior.

• Supportive Care - Ongoing care that helps with physical, mental, and emotional well-being. This care can include therapy, exercise, mental health support, or community resources.

• Tremor - Involuntary shaking or trembling, often starting in the hands or arms.

• Wearable Monitor - An iPhone or Apple Watch that can track movement and coordinate with the StrivePD app.

• YOPD (Young-Onset Parkinson’s Disease) - PD diagnosed before age 50. It can look and feel different from later-onset PD and may have a stronger genetic link.