Contents:
- Medical Video: This Rare Mutation Gives You Massive Muscles At Birth
- What causes the dopamine deficiency syndrome?
- What are the symptoms of the dopamine deficiency syndrome?
- How do you diagnose dopamine deficiency syndrome?
- Is there a way to deal with this condition?
Medical Video: This Rare Mutation Gives You Massive Muscles At Birth
Dopamine is a natural chemical in the body that is produced by the brain and is responsible for supporting various bodily functions. Unfortunately, dopamine levels can be disrupted due to genetic disorders. This condition is known as the dopamine deficiency syndrome (dopamine deficiency syndrome), which makes dopamine levels in the body low. Check out the full review of the following dopamine deficiency syndromes.
What causes the dopamine deficiency syndrome?
Dopamine deficiency syndrome is a rare genetic disorder that is passed down from parents to their children. That is, this condition does not come suddenly, but has existed since the baby was born.
Syndrome that has another name is dopamine and deficiency transport syndrome infantile parkinsonism-dystonia this, most of them just started to appear in childhood. The child's ability to move his body and muscles becomes disturbed.
The main cause is because there is a mutation in a gene, namely SLC6A3. Normally, this gene should be involved in producing the dopamine transporter protein, which would later play a role in controlling 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 to get two copies of the gene and inherit 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 bodily functions. Starting from improving mood, regulating emotions, to facilitate the movement of the body. Therefore, if the body lacks dopamine due to genes that regulate dopamine levels do not function properly, it will automatically affect the work of other body parts.
What are the symptoms of the dopamine deficiency syndrome?
Symptoms of dopamine deficiency syndrome will always be the same at any age. In fact, the symptoms of one genetic disorder are often misinterpreted because it resembles a sign of Parkinson's disease.
The following are common symptoms of dopamine deficiency syndrome:
- Muscle cramps or spasms
- Tremor
- Slow muscle movement (bradykinesia)
- Stiff muscles
- Constipation (constipation)
- Difficulty swallowing food
- Difficulty talking smoothly
- Difficulty regulating body movements and position
- Easily lose balance when standing and walking
- Eye movements are difficult to control
In addition, other symptoms such as experiencing gastric acid reflux (GERD), pneumonia, and insomnia can also be present along with common symptoms.
How do you diagnose dopamine deficiency syndrome?
Doctors will begin to diagnose the presence of genetic abnormalities in dopamine, after observing signs related to body movements and balance. Then the blood sampling test was chosen to ensure the correctness of the diagnosis.
Taking a sample of cerebrospinal fluid in the brain is also possible to study acidic substances associated with dopamine.
Is there a way to deal with this condition?
Dopamine deficiency syndrome is a progressive disease, which means that over time it can become increasingly severe. People who have this disease are estimated to have a fairly small life expectancy.
Unfortunately, so far no truly effective drug has been found to cure this rare genetic disorder syndrome. All recommended treatments are more focused on managing the symptoms that appear.
However, researchers are still trying to find the most suitable treatment for dealing with dopamine deficiency syndrome. At least there are drugs that aim to restore movement disorders due to low dopamine levels. For example levodopa, ropinorole, and pramipexole as parkinson's drugs.
Even so, further research is needed to find out 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, the lifestyle changes and treatment according to the disease are the most able to overcome them.
