Table of contents:
- What causes dopamine deficiency syndrome?
- What are the symptoms of dopamine deficiency syndrome?
- How to diagnose dopamine deficiency syndrome?
- Is there a way to treat this condition?
Dopamine is a natural chemical compound in the body that is produced by the brain and is responsible for supporting various body functions. Unfortunately, dopamine levels can be disrupted due to genetic disorders. This condition is known as dopamine deficiency syndrome (dopamine deficiency syndrome), which lowers dopamine levels in the body. Check out the full review of the following dopamine deficiency syndrome.
What causes dopamine deficiency syndrome?
Dopamine deficiency syndrome is a rare genetic disorder that is passed from parents to children. This means that this condition does not come suddenly, but has been there since the baby was born.
The syndrome has other names as dopamine transport deficiency syndrome and infantile parkinsonism-dystonia of these, most of these only begin to appear in childhood. The child's ability to move their body and muscles is also disturbed.
The main cause is because there is a mutation in a gene, namely SLC6A3. Normally, this gene should be involved in the production of the dopamine transporter protein, which in turn controls how much dopamine must be carried from the brain to the body's cells.
Well, if both parents have one copy of the SLC6A3 gene, then the child is at risk of getting two copies of the gene and inheriting this dopamine deficiency syndrome. As a result, dopamine from the brain cannot be circulated optimally to all parts of the body that need it.
As explained earlier, dopamine is involved in various body work. Starting from improving mood, regulating emotions, to making body movements easier. Therefore, if the body lacks dopamine due to genes that regulate dopamine levels not functioning properly, it will automatically affect the work of other parts of the body.
What are the symptoms of dopamine deficiency syndrome?
The symptoms of dopamine deficiency syndrome will always be the same at any age. In fact, the symptoms of this genetic disorder are often misinterpreted because they are similar to signs of Parkinson's disease.
Here are the common symptoms of dopamine deficiency syndrome:
- Muscle cramps or spasms
- Tremor
- Slow muscle movement (bradykinesia)
- Stiff muscles
- Constipation (constipation)
- Difficulty swallowing food
- It's hard to speak fluently
- Difficulty adjusting body movements and positions
- It is easy to lose balance when standing and walking
- Eye movements difficult to control
In addition, other symptoms such as experiencing acid reflux disease (GERD), pneumonia, and insomnia can also be present along with common symptoms.
How to diagnose dopamine deficiency syndrome?
Your doctor will begin to diagnose a genetic abnormality in dopamine, after observing signs related to body movement and balance. Furthermore, a blood sampling test is selected to confirm the correctness of the diagnosis.
It may also be possible to sample cerebrospinal fluid in the brain to study the acids associated with dopamine.
Is there a way to treat this condition?
Dopamine deficiency syndrome is a progressive disease, which means that over time it can get worse. People who have this disease are thought to have a fairly small life expectancy.
Unfortunately, so far no cure has been found that really works to cure this rare genetic disorder syndrome. All of the recommended treatments are more focused on managing symptoms.
However, researchers are still trying to find the most suitable treatment for dopamine deficiency syndrome. At least there are drugs that aim to reverse movement disorders caused by low dopamine levels. For example levodopa, ropinorole, and pramipexole as Parkinson's drugs.
Even so, further research is still needed to determine the side effects of these drugs in the short and long term. On the other hand, if the dopamine deficiency syndrome causes symptoms in the form of a medical condition, then lifestyle changes and medication according to the disease will best deal with it.
