When Parkinson’s strikes early

Parkinson’s disease is often misdiagnosed or missed in young adults

When Parkinson’s strikes early

Josh (name changed) is a 30-year-old man, who was healthy, happily married, regularly went to the gym and had a good job and a relatively stress-free life. For the past several months, however, he seemed to have become lethargic and withdrawn, and appeared unhappy and depressed to his family members. He also had mild stiffness on the left side of the body. While this did not impact his lifestyle and exercise regimen, he had become slower than normal. Josh underwent a complete evaluation, including routine blood workup, metabolic profile and was also tested for possible infections. Results from all the tests were normal. Josh was still not convinced and wanted to know why he was feeling this way.

Josh then consulted Dr. Anil Venkitachalam, a consultant neurologist and a specialist in movement disorders at Nanavati Hospital, Mumbai, for further assessment. Dr. Venkitachalam examined him and noticed a difference in his left arm swing, but there were no other obvious problems. However, the slowness on left side, together with a lack of emotions and underlying depression, was indicative of early Parkinson’s disease.

Even though Parkinson’s disease is commonly associated with tremors involving one of the hands, it is also associated with slowness of movement. The slowness of movement can be subtle, where one may simply stop swinging the arm while walking, or speech may become slurred. Until a few years ago, the only way to diagnose Parkinson’s was by identifying the four key symptoms that included slowness, tremor, rigidity and postural instability. However, there are many who do not present with these symptoms and often the disease is misdiagnosed. It is therefore important to confirm the disease with a more quantitative test. The DaT scan or dopamine transporter scan is a single photon emission computerized tomography (SPECT) imaging technique that determines the levels of the dopamine transporter in the striatum. SPECT visualizes the radiolabeled isotope that binds to the dopamine transporter, effectively quantifying the transporter levels. These transporters are important for the reuptake of dopamine at the synaptic cleft and have been shown to be reduced by 50-70% in patients with Parkinson’s disease. Josh was confirmed to have Parkinson’s disease after having an abnormal DaT scan.

There is no known cause for Parkinson’s disease. It is believed that there are multifactorial reasons for the degeneration of dopaminergic neurons, which ultimately affects overall bodily movements. In addition to tremors and slowness of movement, patients with Parkinson’s often experience depression and pain, and may have disorders related to sleeping, eating, urination and constipation.

Over the past 2 decades, significant research has been done on the disease. While there is no known cure at this time, there are several drugs in the market to symptomatically manage the disease. Research has focused on refining the existing treatment options, developing new surgical equipment for advanced interventional therapy, improving physician skill sets and so on. The current gold standard for treating Parkinson’s disease is the oral administration of carbidopa-levodopa. Levodopa is a natural chemical that can cross the blood brain barrier with the help of carbidopa, and then get converted to dopamine. Other drugs include dopamine agonists that mimic dopamine. However, these are not as effective as carbidopa-levodopa.

With Josh being so young, it was a challenge for him and his family to accept that he was diagnosed with such a degenerative disorder with no known cure. He was started on an oral medication with dopamine agonists that increase dopamine levels in the brain, along with a recommendation for vigorous lifestyle changes, including increased physical activities like cardiovascular exercises, healthy diet to include more fiber and fluids, and stress reduction. This treatment has thus far been effective for Josh. However, he has a long journey ahead with Parkinson’s disease. As the disease progresses, his symptoms are likely to change, and oral medication will likely become ineffective. As per Dr. Venkitachalam, oral medications are suitable for the first 5-7 years of the disease, when the symptoms are relatively stable and well controlled. After that, treatment will most likely need to be changed as the side effects of the drugs kick in and the absorption of dopamine from the gastrointestinal tract decreases.

In cases where symptoms of Parkinson’s disease kick in early in life, oral medications would need to be eventually replaced with other advanced therapy options. These may need to be considered for Josh. The deep brain stimulation surgery involves implanting electrodes in the brain connected to a pacemaker that sends electrical pulses to specific areas within the brain. This treatment is effective for patients who demonstrate a good response to levodopa. Alternatively, for patients who experience fluctuations in plasma levodopa levels upon oral intake of carbidopa-levodopa, transdermal patches of dopamine agonists and infusion therapies such as apomorphine and levodopa- carbidopa intestinal gel are available.

Patients must be closely monitored, and regular visits to the treating neurophysician every 3-4 months is advised. Associated symptoms should be treated, and the drug choices/doses adjusted, based on disease progression. As both motor and non-motor symptoms are associated with Parkinson’s Disease, often, falls and fractures add to the disability in these patients and multidisciplinary treatment may be needed during the course of the disease.

Even though Parkinson’s Disease is classically thought to be a disease that affects the elderly and tremors in the hand are often the most common symptom that is noticed, in Josh’s case, there was no tremor and he was really young. Dr. Venkitachalam stresses that often Parkinson’s disease is misdiagnosed or missed in young adults as the symptoms are not looked at collectively. “It is important to consider Parkinson’s disease beyond age and tremors, and look for additional clinical clues such as depression, constipation, pain, slowness and lethargy. It is also important to remember that Parkinson’s disease is the only neurodegenerative disorder where treatment is available. Early diagnosis and treatment can help an affected patient have a normal quality of life.”

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