Understanding Dopamine Deficiency Syndrome

Dopamine is a neurotransmitter found naturally in the human body.(1) Dopamine sends signals to the brain from the body.(1) It has an important part in controlling the movements along with emotional responses. Due to its vital role in the human body, it is crucial that the balance of dopamine is maintained in the body for ensuring both the mental and physical wellbeing of a person. The levels of dopamine have an influence on brain functions, such as concentration, learning, memory, motor control, mood, and even sleeping patterns. When the balance of dopamine gets disturbed in the body, it can cause conditions such as Parkinson’s disease and depression. Dopamine deficiency, an extremely rare condition, affects the ability to move muscles and the body. Children are primarily affected by this condition. Understanding dopamine deficiency syndrome will help in finding ways to manage this condition from an early stage itself.

Understanding Dopamine Deficiency Syndrome

What is Dopamine Deficiency Syndrome?

Dopamine deficiency syndrome is one of the rarer hereditary conditions in the world, having only about 20 confirmed cases so far.(3) Also known as infantile parkinsonism-dystonia and dopamine transporter deficiency syndrome, the condition primarily affects children, with symptoms generally making an appearance during the infant years itself.(3) Dopamine deficiency has an impact on the child’s ability to move their muscles and joints.

It is likely that a dopamine deficiency occurs due to a decrease in the levels of dopamine produced by the body or due to a problem with the dopamine receptors found in the brain.

Dopamine deficiency syndrome is a progressive condition, worsening over a period of time. Till now, there is no cure and the treatment revolves around the management of symptoms.

What are the Symptoms of Dopamine Deficiency Syndrome?

The symptoms of dopamine deficiency syndrome tend to vary depending on the underlying cause of the disease. For instance, a patient of Parkinson’s disease will likely experience very different symptoms as compared to someone who has decreased levels of dopamine owing to drug usage.

Some common symptoms that happen when the levels of dopamine fall in the body include:(1)

Causes of Dopamine Deficiency Syndrome

The genetic condition of dopamine deficiency syndrome is caused by mutations that occur on the SLCA3 gene.(3) This particular gene is involved in the production of the primary dopamine transporter protein, which is responsible for controlling the amount of dopamine getting transported from the brain to different cells of the body.

Since dopamine controls functions from your moods to your cognition abilities, as well as regulating the movements of your body, when the levels of dopamine fall, it has a direct impact on muscle control of the body.

Does Dopamine Deficiency Syndrome Cause Mental Illnesses?

While low levels of dopamine are linked to a number of mental health conditions, it is not responsible for directly causing any of these conditions.(1) Some of the common conditions associated with a deficiency of dopamine include:(1)

It is also believed that drug abuse also has an effect on dopamine levels. Several studies have shown that over a period of time, drug use alters the thresholds that are necessary for the activation and signaling of dopamine cells.

When drug use damages these thresholds, the threshold becomes higher, making it difficult for a person to experience any of the positive effects of dopamine. Regular drug users also have reduced dopamine D2 receptors and decreased dopamine release in the body.

Who is at Risk for Dopamine Deficiency Syndrome?

As it is a genetic condition, the patient is born with a genetic mutation causing Dopamine Deficiency Syndrome. The risk factor in this condition happens to be the genetic makeup of the parents. In a condition where both parents have a copy of the mutated gene SLC6A3, then the child receives two copies of the mutated gene, inheriting the condition.

Diagnosis of Dopamine Deficiency Syndrome

Many times, a pediatrician makes a diagnosis after observing the challenges the child is having with movement or balance. The diagnosis gets confirmed by a blood test that checks for the genetic markers of the disease.

In some cases, the doctors also prescribe a neurotransmitter profile test, in which a sample of the cerebrospinal fluid is taken to look for acids that are associated with dopamine.

Is There a Cure for Dopamine Deficiency Syndrome?

Since there is no cure for Dopamine Deficiency Syndrome, there is also no standardized treatment plan for dopamine deficiency syndrome. Doctors will go by trial and error with medications, looking to check which medications work best for you.

Can Dopamine Deficiency Syndrome Be Treated?

Symptom management is the only plan of treatment for Dopamine Deficiency Syndrome. Some researchers have had success with the management of certain movement related to the production of dopamine, while others have found success with the management of some other aspect of the disease.(2) For example, the medication levodopa has been found to be successful in relieving symptoms of Parkinson’s disease.(1) Similarly, medications such as pramipexole and ropinirole are being used successfully to treat Parkinson’s disease in adults.(1) This medication is, therefore, also be used for managing the symptoms of dopamine deficiency.

However, to determine the short-term and long-term side effects of these medications, more research is still needed.

Treatment and management of symptoms that are similar to other movement or joint disorders are being carried out through medication and lifestyle changes. These strategies are used to treat symptoms of:

  • Lung infections
  • GERD
  • Constipation
  • Breathing problems
  • Muscle stiffness

Counseling, Lifestyle And Dietary Modifications For Treatment Of Dopamine Deficiency Syndrome(1)

Counseling, changes in diet and lifestyle, as well as physical therapy for movement problems and muscle stiffness, are some of the other treatments that doctors suggest for a dopamine deficiency condition.

Supplements for Treatment of Dopamine Deficiency Syndrome

Supplements for increasing the levels of magnesium, omega-3 essential fatty acids, and vitamin D in the body are also prescribed to boost the dopamine levels. However, again, more research is required to prove whether these methods are effective or not.

Conclusion

It has been observed that children and infants having dopamine deficiency syndrome are likely to have a shorter lifespan.(3) They become more susceptible to life-threatening infections and other illnesses, affecting not just the quality of their life, but also their longevity. There is no doubt that dopamine deficiency has a severe impact on the quality of a person’s life. It affects them both mentally as well as physically.

Several mental health disorders have been linked to low levels of dopamine, while medical conditions, such as Parkinson’s disease, are also known to cause low dopamine levels in the body.

As of today, there is not much evidence that shows how diet and lifestyle changes can increase the dopamine levels in the body. However, some medications and therapies are known to provide relief in symptoms. However, before beginning any treatment or medication for increasing dopamine levels, it is absolutely important that you consult your doctor first.

References:  

  1. https://www.medicalnewstoday.com/articles/320637.php
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002401/
  3. https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome#statistics

Blum, K., Sheridan, P.J., Wood, R.C., Braverman, E.R., Chen, T.J.H., phd, J.C. and Comings, D.E., 1996. The D2 dopamine receptor gene as a determinant of reward deficiency syndrome. Journal of the Royal Society of Medicine, 89(7), pp.396-400.

Scatton, B., Rouquier, L., Javoy-Agid, F. and Agid, Y., 1982. Dopamine deficiency in the cerebral cortex in Parkinson disease. Neurology, 32(9), pp.1039-1039.

Riemensperger, T., Isabel, G., Coulom, H., Neuser, K., Seugnet, L., Kume, K., Iché-Torres, M., Cassar, M., Strauss, R., Preat, T. and Hirsh, J., 2011. Behavioral consequences of dopamine deficiency in the Drosophila central nervous system. Proceedings of the National Academy of Sciences, 108(2), pp.834-839.

Goldstein, D.S., Holmes, C., Bentho, O., Sato, T., Moak, J., Sharabi, Y., Imrich, R., Conant, S. and Eldadah, B.A., 2008. Biomarkers to detect central dopamine deficiency and distinguish Parkinson disease from multiple system atrophy. Parkinsonism & related disorders, 14(8), pp.600-607.

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