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What is dopamine deficiency disease?
Dopamine deficiency syndrome is a rare genetic condition, with only 20 confirmed cases. It is known is Dopamine deficiency and Parkinsonism - Infantile Parkinsonism-dystonia (IPD).
This affects the child's ability to move bodies and muscles. Although the symptoms typically appear during infancy. But it might not appear until later in childhood. Symptoms are similar to other movement disorders, such as children's Parkinson's disease. For this reason, it is often misdiagnosed. Some researchers think it is more common than previously thought.The condition is progressive, meaning it gets worse over time. There is no cure, so treatments are focused on managing symptoms.
Dopamine deficiency disease What are the symptoms
The symptoms are often the same regardless of the age in which the disease has developed. These may include:
Muscles move very slowly (bradykinesia)
Difficulty eating and swallowing
Difficulty speaking and making words
Difficulty with balance when standing and walking
Uncontrollable eye movements
Acid reflux disease (GERD)
According to the National Library of Medicine of the United States, This genetic predisposition is caused by a mutation in the SLC6A3 gene. This gene is involved in the making of a dopamine transporter protein. This protein regulates the amount of dopamine that is transported from the brain to cells.