YOPD unpacked: Symptoms, diagnosis, genes and available treatments

Welcome to Parkinson Pharos! We speak often about finding clarity and strength on every Parkinson's journey, and nowhere is that focus more important than for those dealing with Young-Onset Parkinson's Disease (YOPD).

YOPD is defined simply as receiving a Parkinson’s diagnosis before the age of 50. This affects a significant part of our community—about 5% to 10% of all people diagnosed with Parkinson's. If you were diagnosed in your 30s or 40s, like Michael, you are navigating this condition during the peak of your career, potentially raising young children, and being a caregiver to your parents.

Understanding the specific characteristics of YOPD is the first step toward taking care of your treatment, maintaining your autonomy, and living life to the fullest.

The unique clinical picture of YOPD

While the core movement symptoms of Parkinson’s disease remain similar across all age groups—slowness (bradykinesia), stiffness (rigidity), and tremor (shaking) —YOPD has key differences with late-onset cases (diagnosed after age 50).

Key differences in progression and symptoms

• Slower worsening of symptoms (disease progression): An important positive difference is that people with YOPD generally experience a slower overall progression of symptoms compared to those diagnosed later in life.

• Memory and thinking clarity: Issues related to thinking, memory loss, and dementia tend to be less frequent or very much delayed.

• Dystonia is common: People with YOPD have higher frequency of dystonia. Dystonia is painful and involuntary muscle spasms that often affect the foot or leg, sometimes causing the toes to curl. It can be one of the very first movement symptoms you notice, often occurring with exercise.

• Balance: Problems with balance and posture (postural instability) tend to happen later in Parkinson’s generally, and are less frequent or delayed in YOPD compared to typical Parkinson’s disease cases.

Why is diagnosis so challenging for younger adults?

Since Parkinson’s affects more often people around the age of 60, when symptoms appear at a younger age doctors may overlook them. The pathway to a YOPD diagnosis is often long and early symptoms can be misunderstood. Stiffness or rigidity, especially, may be mistaken for common orthopedic issues like arthritis or even overuse injuries. Read Michael’s first symptoms here. Michael lives with YOPD.

People with YOPD often experience non-movement symptoms years or even decades before movement issues appear:

• Loss of smell (hyposmia): The sense of smell decreases or a person may not be able to smell at all.

• Sleep problems: These can include restless sleep, nightmares, and acting out dreams. This means one might talk, move, or even fall out of bed while dreaming. It can appear years before other symptoms.

• Constipation: Some studies report it as the most common early symptom.

• Mood changes: Depression and anxiety are common and are often mistaken for stress-related psychological issues rather than recognized as symptoms related to Parkinson’s disease.

Genetics of YOPD: Understanding your family connection

If Parkinson's runs in your family, you might be wondering: "Will my children develop Parkinson’s?" or "Why did I develop it so young?" Let's break down what we know about genetics and YOPD in a way that makes sense.

Most people with Parkinson's do not inherit it directly from their parents—it is not like passing down eye color or height. However, about 1 in 10 cases does have a clear genetic link, where a change in a single gene increases the likelihood of developing Parkinson's, often at a younger age.

What does a genetic change mean for you?

Think of genes as your body's instruction manual. Sometimes, a typo in these instructions can affect how your brain cells work. Having one of these changes does not guarantee you will develop Parkinson's—many people with the same genetic change never do. But it can help explain why the disease appeared earlier in your life and why it might appear in other family members.

The YOPD genetic players

In YOPD, researchers have identified specific genes that are more commonly affected: PRKN, PINK1, LRRK2, and DJ-1. Here is an encouraging finding: people with changes in these genes, particularly PRKN and PINK1, often experience a slower disease progression—which is what we generally see in YOPD.

Should you consider genetic testing?

If you have a strong family history of Parkinson's, genetic testing might be worth discussing with your neurologist. Here's why:

• Treatment planning: Your genetic profile may influence future treatment options and may open doors to new treatments being developed specifically for certain genetic types.

• Research opportunities: Many clinical trials are now looking for participants with specific genetic profiles. Knowing yours could give you access to cutting-edge therapies.

• Family planning: If you're thinking about having children, genetic counseling can provide clarity and help you make informed decisions.

Initial treatment: Balancing effectiveness and risk

One of the main challenges in treating YOPD is the higher chance of developing dyskinesias. These are uncontrolled, dance-like movements that happen on their own, without the person meaning to move. Dyskinesias happen after years of taking levodopa. Because YOPD patients have many decades of active life ahead, they receive levodopa for a longer period of time than someone diagnosed later in life. Levodopa can cause dyskinesia in about 4 out 10 (40%) patients after 4-6 years of use.

This is why partnering with a neurologist who has experience with YOPD is crucial. Your treatment strategy should be personalized to your age, lifestyle, and long-term goals.

Current practice focuses on carefully choosing the correct levodopa dose depending on the symptoms, rather than simply delaying levodopa. Frequently, specialists use other treatments first and when is considered necessary, levodopa treatment is introduced. This helps manage symptoms while reducing the likelihood of developing unwanted movements at a young age.

• Initial medication: Treatment of YOPD typically begins with dopamine agonists (which mimic dopamine) or MAO-B inhibitors (which allows dopamine to last and act longer in the brain).

• Levodopa use: Levodopa is introduced when it can make a meaningful difference in daily life and help maintain quality of life.

• Advanced therapies: If more advanced therapies are needed to manage symptoms, YOPD patients are often excellent candidates for surgical and device-aided treatments like Deep Brain Stimulation (DBS) or continuous infusion pumps. These procedures aim to keep stable drug levels in the blood and reduce the extreme highs and lows that trigger dyskinesias.

Work closely with your neurologist to regularly review your treatment plan. What works today might need adjustment tomorrow, and staying proactive about your medication management is one of the best ways to maintain control over your symptoms and your life.

The future: Research is rewriting the prognosis

Here is the good news: Many individuals with YOPD maintain great autonomy and physical performance for many years. And for someone diagnosed today, future improvements in medications and therapies is believed to change a lot the way the disease progresses.

The pace of research in Parkinson’s disease is accelerating. New studies are exploring therapies that go beyond symptom control, aiming to better understand—and eventually influence—the underlying mechanisms of the disease. While no treatment today can stop Parkinson’s progression, the scientific landscape is changing rapidly, especially for people diagnosed at a younger age.

At Parkinson Pharos, we closely follow these developments with a critical eye. Our goal is to translate meaningful scientific progress into clear, reliable information you can trust. As research evolves, we will highlight what is truly promising, explain what it means in real-life terms, and be honest about what is still uncertain.

In the next article, we move beyond “what YOPD is” and focus on what truly matters day to day: how to live well with Young-Onset Parkinson’s—at work, in relationships, in parenthood, and in your personal goals.