How Hereditary Is Parkinson’s Disease
If your mom or dad gets Parkinson’s disease, you might wonder if you’ll get it, too. The good news is that the chance of inheriting Parkinson’s disease is rare . Just how hereditary Parkinson’s disease is depends on the exact mutation involved.
There are two categories of genetic factors linked to Parkinson’s. The first is “causal,” meaning the gene itself is capable of bringing on the disease.
One example of a causal link to Parkinson’s disease can be found in the SNCA gene. Researchers know of at least 30 mutations on this particular gene that can cause Parkinson’s disease, especially in people younger than 50 years old.
The SNCA gene tells the body how to make a protein called alpha-synuclein. When the gene has a mutation, the body may produce too much alpha-synuclein or versions of the protein with an incorrect shape. Either of these problems can lead to alpha-synuclein to gather in the brain in clusters called Lewy bodies, which disrupt normal brain functioning. Lewy bodies are associated with Parkinson’s, along with a range of other diseases .
Not all genetic mutations cause Parkinson’s disease, though. “Associated” genetic factors for Parkinson’s increase a person’s odds of developing the disease, but aren’t directly responsible for it.
“You’re susceptible, but you need something else present as well ,” Dr. Litvan says. “That could be other genes or it could be an environmental factor.”
How To Test For Parkinson’s Disease
This article was medically reviewed by Erik Kramer, DO, MPH. Dr. Erik Kramer is a Primary Care Physician at the University of Colorado, specializing in internal medicine, diabetes, and weight management. He received his Doctorate in Osteopathic Medicine from the Touro University Nevada College of Osteopathic Medicine in 2012. Dr. Kramer is a Diplomate of the American Board of Obesity Medicine and is board certified.There are 10 references cited in this article, which can be found at the bottom of the page. This article has been viewed 35,437 times.
Parkinsons Disease is a progressive neurodegenerative disorder affecting both motor and non-motor abilities. It afflicts 1% of those over 60 years of age.XResearch sourceJOHN D. GAZEWOOD, MD, MSPH,D. ROXANNE RICHARDS, MD,KARL CLEBAK, MD, Parkinsons An Update, The American Family Physician, 2013 Feb 15 87:267-273 It is a progressive disorder of the central nervous system. PD is caused by a lack of dopamine, a chemical that helps the parts of your brain responsible for motor function communicate with each other. This condition often causes tremors, muscle stiffness, slowness, and poor balance. If you suspect that you, or someone you love, has Parkinsons, it is important to know how you can diagnose this condition. Begin by trying to identify symptoms of the disease at home, and then see your doctor for an appropriate medical diagnosis.
What Are The Symptoms Of Parkinsons Disease
Symptoms of Parkinsons disease and the rate of decline vary widely from person to person. The most common symptoms include:
Other symptoms include:
- Speech/vocal changes: Speech may be quick, become slurred or be soft in tone. You may hesitate before speaking. The pitch of your voice may become unchanged .
- Handwriting changes: You handwriting may become smaller and more difficult to read.
- Depression and anxiety.
- Sleeping disturbances including disrupted sleep, acting out your dreams, and restless leg syndrome.
- Pain, lack of interest , fatigue, change in weight, vision changes.
- Low blood pressure.
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What Parkinsons Diagnosis Criteria Do Doctors Use
Until the 1980s, there was no formal diagnostic criteria for Parkinsons disease. Beginning with James Parkinsons 1817 article, An Essay on the Shaking Palsy, and Margaret Hoehn and Melvin Yahrs description of the five stages of motor progression in 1967, scientists focused on the unique ways Parkinsons disease affects movement. A few scientists also noted non-motor symptoms like issues with automatic body functions, such as heart rate and blood pressure.
With the discovery in the 1950s of levodopa, a drug that gets turned into dopamine in your brain and thus replaces some of the dopamine that is lost due to PD, and the discovery of how dramatically levodopa improves motor symptoms, the medical community continued to focus more of their efforts on defining and treating Parkinsons as a motor condition.7
What Medications Are Used To Treat Parkinsons Disease
Medications are the main treatment method for patients with Parkinsons disease. Your doctor will work closely with you to develop a treatment plan best suited for you based on the severity of your disease at the time of diagnosis, side effects of the drug class and success or failure of symptom control of the medications you try.
Medications combat Parkinsons disease by:
- Helping nerve cells in the brain make dopamine.
- Mimicking the effects of dopamine in the brain.
- Blocking an enzyme that breaks down dopamine in the brain.
- Reducing some specific symptoms of Parkinsons disease.
Levodopa: Levodopa is a main treatment for the slowness of movement, tremor, and stiffness symptoms of Parkinsons disease. Nerve cells use levodopa to make dopamine, which replenishes the low amount found in the brain of persons with Parkinsons disease. Levodopa is usually taken with carbidopa to allow more levodopa to reach the brain and to prevent or reduce the nausea and vomiting, low blood pressure and other side effects of levodopa. Sinemet® is available in an immediate release formula and a long-acting, controlled release formula. Rytary® is a newer version of levodopa/carbidopa that is a longer-acting capsule. The newest addition is Inbrija®, which is inhaled levodopa. It is used by people already taking regular carbidopa/levodopa for when they have off episodes .
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Looking For Signs Of Parkinsons
Your specialist will examine you to look for common signs of Parkinsons. You may be asked to:
- write or draw to see if your writing is small or gradually fades
- walk to see whether theres a reduction in the natural swing of your arm or in your stride length and speed
- speak to see if your voice is soft or lacks volume
The specialist will also look at and ask you about your:
- face to see if there is a masked look or if you have difficulty with facial expressions
- limbs to see if you have a tremor, any stiffness or slowness of movement
As well as examining you for any of the typical signs of Parkinsons, the specialist will also look for signs that may suggest a different diagnosis.
It may be helpful to take someone with you for support when seeing a specialist. Taking a list of questions you want to ask can also be useful so you dont forget to mention something you want to know about. If a healthcare professional says something you dont understand, dont be afraid to ask them to explain what they mean.
How Is Parkinson’s Diagnosed
This information looks at what parkinsonism is, how Parkinsons and other similar conditions may be diagnosed, and explains some of the tests that may be involved in the process.
Most people with a form of parkinsonism have idiopathic Parkinsons disease, also known as Parkinsons. Idiopathic means the cause is unknown.
Other less common forms of parkinsonism include multiple system atrophy , progressive supranuclear palsy , drug-induced parkinsonism and vascular Parkinsons.
If youre concerned about symptoms youve been experiencing, you should visit your GP. If your GP suspects you have Parkinsons, clinical guidelines recommend they should refer you quickly to a specialist with experience in diagnosing the condition .
Its not always easy to diagnose the condition. So its important that you see a Parkinsons specialist to get an accurate diagnosis and to consider the best treatment options.
Diagnosing Parkinsons can take some time as there are other conditions, such as essential tremor , with similar symptoms. There is also currently no definitive test for diagnosing Parkinsons.
Other Challenges Of Diagnosing Parkinsons Disease
Parkinsons disease progresses slowly, often with non-motor symptoms appearing months or years before motor symptoms. This can make it challenging for doctors to diagnose you in the early stages, especially since the diagnostic criteria is based mostly on motor symptoms. You may have to wait until your symptoms progress for you and your doctor to confirm your diagnosis.14
Age and gender can be another issue. Since Parkinsons is associated more with older men, doctors may not think their younger or female patients have Parkinsons.5 On the other hand, since the disease is associated with aging, your symptoms may be blamed on getting older.
Remember that movement disorder specialists are extremely knowledgeable about Parkinsons disease and can help put the pieces together where other more generalized doctors may not. Never hesitate to fight for the care you deserve.
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Clinical Basis Of The Levodopa Test
Parkinsons disease is difficult to diagnose, especially in the early stages. Several neurological diseases such as atypical Parkinsonian disorders show similar symptoms to Parkinsons disease, but have different causes. There is no single test that can definitively identify Parkinsons disease, and 5 to 10 percent of patients are misdiagnosed. Up to 20 percent of patients who are diagnosed with Parkinsons disease are later found to have other conditions.
Parkinsons disease is characterized by low levels of a neurotransmitter called dopamine in the brain. This is caused by the death of dopaminergic neurons in a region of the brain called the substantia nigra, which regulates motor functions and normal physical activity. This causes progressive deterioration of motor functions in Parkinsons disease patients resulting in typical motor symptoms .
Levodopa is the precursor of dopamine that, unlike dopamine, can cross the blood-brain barrier. Once inside the brain, it is converted into dopamine by the enzyme, dopa decarboxylase and replenishes dopamine levels, thereby restoring or improving motor function. That is why patient response to levodopa can be used to distinguish Parkinsons disease from other neurological conditions.
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Should I Get Tested For Genetic Markers For Parkinson’s
You can find out if you have certain genetic markers for Parkinson’s disease with at-home genetic tests. However, Dr. Litvan is cautious about recommending genetic testing for everyone. Remember: Most people with the mutations linked to Parkinson’s never get the disease, so you may end up with a ton of unnecessary stress and worry if your results reveal one of these genetic factors.
Assessing Level Of Rigidity
Doctors also look for rigidity by moving the joints in your elbows, wrists, knees, and ankles to see if there’s resistance. The resistance may be smooth or may appear as slight hesitations in movements, known as cogwheeling. This is sometimes made more obvious by the patient actively moving the opposite limb.
Diagnosing Parkinsons Disease Accurately
Ensuring accurate diagnoses can be especially challenging when patients are in early stages of their conditions. Early accurate diagnosis is key for the development of preventative treatment options to slow progression of PD, DLB, and MSA. In addition, symptomatic treatment options will differ based on the diagnosis, and patients deserve an answer as soon as possible when facing these potential diagnoses. Patients who have an obvious or well established diagnosis do not need further testing, but for those whose diagnosis is unclear, the use of the Syn-One test can be extremely useful.
Advances such as the use of the Syn-One test as well as the DaTSCAN are just two of the ways that our work at PNI is helping improve the quality of life of our patients and our community.
Pacific Movement Disorders Center |
Symptoms Of Parkinsons Disease
Parkinson’s disease has four main symptoms:
- Tremor in hands, arms, legs, jaw, or head
- Stiffness of the limbs and trunk
- Slowness of movement
- Impaired balance and coordination, sometimes leading to falls
Symptoms of Parkinsons and the rate of progression differ among individuals. Sometimes people dismiss early symptoms of Parkinson’s as the effects of normal aging. In most cases, there are no medical tests to definitively detect the disease, so it can be difficult to diagnose accurately.
Early symptoms of Parkinson’s disease are subtle and occur gradually. For example, affected people may feel mild tremors or have difficulty getting out of a chair. They may notice that they speak too softly, or that their handwriting is slow and looks cramped or small. Friends or family members may be the first to notice changes in someone with early Parkinson’s. They may see that the person’s face lacks expression and animation, or that the person does not move an arm or leg normally.
People with Parkinson’s often develop a parkinsonian gait that includes a tendency to lean forward, small quick steps as if hurrying forward, and reduced swinging of the arms. They also may have trouble initiating or continuing movement.
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You May Notice These Vocal Changes Too
Besides speaking quietly, individuals with Parkinsons often experience a range of other vocal changes. These may include speaking with a hoarse voice, speaking in monotone, a vocal tremor, changes in the rate of speech, decreased articulation or slurring, and more.
Experts say that this particular symptom often presents as the first sign of Parkinsons. Emerging evidence suggests voice dysfunction is the earliest sign of motor impairment in Parkinsons disease . The complexity and fine motor control involved in vocalization may result in dysfunction here before the limbs, says a study published in the Journal of Clinical Neuroscience. This often contributes to the symptom being overlooked until other symptoms emerge.
What Causes Parkinsons Disease
Parkinsons disease occurs when nerve cells in an area of the brain called the substantia nigra become impaired or die. These cells normally produce dopamine, a chemical that helps the cells of the brain communicate . When these nerve cells become impaired or die, they produce less dopamine. Dopamine is especially important for the operation of another area of the brain called the basal ganglia. This area of the brain is responsible for organizing the brains commands for body movement. The loss of dopamine causes the movement symptoms seen in people with Parkinsons disease.
People with Parkinsons disease also lose another neurotransmitter called norepinephrine. This chemical is needed for proper functioning of the sympathetic nervous system. This system controls some of the bodys autonomic functions such as digestion, heart rate, blood pressure and breathing. Loss of norepinephrine causes some of the non-movement-related symptoms of Parkinsons disease.
Scientists arent sure what causes the neurons that produce these neurotransmitter chemicals to die.
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Learn More About Parkinsons Disease: Overview
Genetic Testing For Parkinsons Disease
Similar to other complex diseases, the reason a particular person develops Parkinsons disease is likely a combination of genetic makeup and environment. In most people, the genetic contribution to disease development may be due to a number of different genes and the interactions between them. For only a very small percentage of people with PD, about 10%, the disease can be attributed to a single abnormal gene. Figuring out the identity and contributions of all the different genes that play a role in disease development is a very hot topic in PD research today.
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What To Expect At The Appointment
To make a Parkinsons diagnosis, your doctor will look for the three main motor symptoms: bradykinesia , tremor and rigidity. Remember, not everyone with Parkinsons disease has a tremor. They will also ask questions and examine you to see if there are possible other explanations for your symptoms besides Parkinsons.
The doctor will ask you questions and look for Parkinsons signs like:
- If you have a resting tremor, meaning your tremor appears when your limb like an arm or leg is still
- If your tremor and/or other movement issues occur on one side of your body only
- If your handwriting has become very small
- If you have issues with balance
- If the way you walk has changed for example, you are taking small steps or having trouble turning
- If you have stiffness, aka rigidity, in your arms or legs for example, you dont swing your arm when you walk
- If you have difficulty with fine motor movements like combing your hair or brushing your teeth
- If your voice has become softer or more difficult for others to hear
To assess your non-motor symptoms, your doctor may ask you questions about:
- If youve lost your sense of smell
- If you experience constipation
- If you talk or act out dreams while you sleep
What Doctors Look For When Diagnosing Parkinsons
Certain physical signs and symptoms noticed by the patient or his or her loved ones are usually what prompt a person to see the doctor. These are the symptoms most often noticed by patients or their families:
Shaking or tremor: Called resting tremor, a trembling of a hand or foot that happens when the patient is at rest and typically stops when he or she is active or moving
Bradykinesia: Slowness of movement in the limbs, face, walking or overall body
Rigidity: Stiffness in the arms, legs or trunk
Posture instability: Trouble with balance and possible falls
Once the patient is at the doctors office, the physician:
Takes a medical history and does a physical examination.
Asks about current and past medications. Some medications may cause symptoms that mimic Parkinsons disease.
Performs a neurological examination, testing agility, muscle tone, gait and balance.
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