Early Parkinson's symptoms often mistaken for normal aging
BGI Genomics
image: BGI Genomics Unlocking Genetic Signs of Early-Onset Parkinson's Disease 1
Credit: BGI Genomics
Parkinson's disease is often seen as a condition that primarily affects older adults. In reality, it can impact people at any age, with 10-20% of cases appearing before the age of 50, and about half of those are diagnosed before age 40, according to the American Parkinson Disease Association.
The genetic link makes early detection challenging. Next-generation sequencing-based genetic testing offers a way to identify genetic markers early, enabling timely intervention and better management of the disease.
The Stealthy Onset of Symptoms
Early-onset Parkinson’s disease (EOPD), diagnosed in those under 50, often starts subtly. Unlike the obvious tremors seen in older patients, younger individuals may experience symptoms that are easily overlooked. These may include unexplained aches, muscle stiffness that feels like a persistent knot, or a hand that only trembles when at rest. Movements may become slower, steps less steady, or facial expressions less animated—changes so gradual they can be mistaken for fatigue or normal aging.
Sleep disturbances can also appear years before motor symptoms. Recent research by Oregon Health & Science University highlights a link between sleep disorders and Parkinson's. Specifically, Rapid-eye-movement sleep behavior disorder (RBD)—where people act out their dreams due to a loss of muscle paralysis—is rare but significantly more common in veterans, especially those with PTSD (9% overall, 21% with PTSD).
The research found that nearly all individuals with RBD (96%) eventually develop Parkinson's or related disorders, sometimes decades later. While no clinical biomarker has been identified, this research opens the door for other diagnostic methods, such as MRIs, to capture a snapshot of glymphatic function, offering further insight into early disease progression.
Depression and anxiety, often attributed to stress, can also be early indicators. Persistent, unexplained pain in limbs or joints—unconnected to any injury—might signal the onset of Parkinson's. These signs, if dismissed or misdiagnosed, allow the disease to progress unchecked.
Genetics: The Hidden Blueprint
Genetic screening serves as a powerful tool, especially for those with a family history of Parkinson's. Early knowledge enables vigilant monitoring and can inspire preventive measures, such as lifestyle adjustments and therapies to delay symptom onset.
For many with EOPD, genetic mutations play a significant role. Scientists have identified several genes that increase susceptibility. Besides the well known —such as LRRK2, PARK2, and PINK1— a study conducted by researchers from BGI Genomics, published in Neuroscience Bulletin last year, also revealed novel genetic cause of Parkinson's disease, which is a mutation in the CARS gene, offered a new path for prevention and control of the disease.
A family history of Parkinson's raises the risk, though having these genes does not guarantee the disease will develop. Environmental factors—like pesticide exposure, repeated head trauma, or certain toxins—may trigger the disease in those already genetically predisposed.
Early Screening, Early Intervention
Identifying mutations in responsible genes can reveal an increased risk even before symptoms appear. Once a genetic predisposition is known, personalized monitoring and lifestyle adjustments—like regular physical activity and a balanced diet—can help delay the onset or slow progression.
With the support of genetic testing, such as BGI Genomics' Clinical Whole Exome Sequencing (cWES), doctors can obtain a detailed genetic profile to assist in diagnosis and enable timely intervention.
The misconception that Parkinson's only affects the elderly can have serious consequences. Young patients often feel isolated, with their struggles dismissed by those who assume they are "too young" for such a diagnosis. Understanding genetic risks and advocating for early intervention could mean preserving years of independence and quality of life.
If you notice persistent symptoms of stubborn stiffness, an intermittent tremor, or unexplained pain, consult a healthcare professional for a thorough evaluation. Parkinson's doesn't wait for age to catch up.
About Clinical Whole Exome Sequencing (cWES)
BGI Genomics' cWES examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases. Search for genes of interest and associated mutations, and confirm whether the Xome test is suitable for your requirements.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.
Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.