SLC6A3-related dopamine transporter deficiency syndrome

SLC6A3-related dopamine transporter deficiency syndrome is a complex movement disorder. It shows up as problems with movement like tremor, stiffness, slow movements (bradykinesia), involuntary movements (chorea), reduced facial expression, and symptoms similar to Parkinsonism-dystonia. These issues arise because the dopamine transporter protein does not work correctly. This condition is caused by changes in the SLC6A3 gene that reduce the function of the dopamine transporter. This defect affects how dopamine, a chemical important for controlling movement, is regulated in the brain. The age when symptoms begin can vary widely from infancy to adulthood, making each case unique.

People with this condition may experience a range of movement problems including tremor, rigidity (stiffness), slow movements (bradykinesia), involuntary movements (chorea), and reduced facial expression. These signs are typical of the condition as described in the available information.

This disorder is linked to loss of function variants in the SLC6A3 gene. These genetic changes lead to an impaired dopamine transporter protein, which affects the normal movement of dopamine in the brain. This disrupted dopamine transport is key to the movement difficulties experienced in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.