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A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus
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AbstractBackgroundDopa‐responsive dystonia (DRD) and DRD‐plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity. Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect. Therefore, even though levodopa is the mainstay of therapy, response to levodopa can be suboptimal and, thus, other drugs are tried.Methods and ResultsThe authors searched for reports of DRD and DRD‐plus and reviewed the drugs used, their response and side effects, and neurologic outcomes, including motor and cognition. Based on the current results, a recommended treatment plan is presented according to the type of enzyme defect in patients with DRD and DRD‐plus.ConclusionsIt is important to recognize the features of DRD and DRD‐plus, because many of them have a good clinical response to the appropriate treatment. The aim of this review is to help guide clinicians with planning treatment for patients with DRD and DRD‐plus.
Title: A Systematic Review of Treatment Outcome in Patients with Dopa‐responsive Dystonia (DRD) and DRD‐Plus
Description:
AbstractBackgroundDopa‐responsive dystonia (DRD) and DRD‐plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity.
Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect.
Therefore, even though levodopa is the mainstay of therapy, response to levodopa can be suboptimal and, thus, other drugs are tried.
Methods and ResultsThe authors searched for reports of DRD and DRD‐plus and reviewed the drugs used, their response and side effects, and neurologic outcomes, including motor and cognition.
Based on the current results, a recommended treatment plan is presented according to the type of enzyme defect in patients with DRD and DRD‐plus.
ConclusionsIt is important to recognize the features of DRD and DRD‐plus, because many of them have a good clinical response to the appropriate treatment.
The aim of this review is to help guide clinicians with planning treatment for patients with DRD and DRD‐plus.
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Phylogenetic evidence suggests a later origin of the DRD
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and DRD
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2l
and DRD
4rs
dopamine receptor gene lineages
Dopamine receptors are integral membrane proteins whose endogenous ligand is dopamine. They play a fundamental role in the central nervous system and dysfunction of dopaminergic ne...
Evolution of dopamine receptors: phylogenetic evidence suggests a later origin of the DRD
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and DRD
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dopamine receptor gene lineages
Evolution of dopamine receptors: phylogenetic evidence suggests a later origin of the DRD
2l
and DRD
4rs
dopamine receptor gene lineages
Dopamine receptors are integral membrane proteins whose endogenous ligand is dopamine. They play a fundamental role in the central nervous system and dysfunction of dopaminergic ne...
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