Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review

Cherian, Ajith; Paramasivan, Naveen Kumar; Kajaria, Divya

doi:10.1007/s13760-020-01574-1

Cited by 8 publications

(3 citation statements)

References 45 publications

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“…The onset of dystonia in childhood and progressive aggravation with diurnal fluctuation. The classic phenotype of DRD is characterized by onset in childhood with walking difficulties due to lower limb dystonia that progresses to generalized dystonia, concurrent or subsequent development of parkinsonism (mainly rigidity and bradykinesia), which usually misdiagnosed as cerebral palsy, [3,4] just like the case of our patient.…”

Section: Discussionmentioning

confidence: 88%

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: A case report

Zhou,

Luo

2024

Medicine

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Rationale: Dopa-responsive dystonia (DRD) is a rare autosomal dominant hereditary disorder with a prevalence of 0.5 per million population. The disease is characterized by onset of dystonia in childhood, progressive aggravation of the dystonia with diurnal fluctuation, and complete or near complete alleviation of symptoms with low-dose oral levodopa. The incidence of DRD is low, and only a few publications have described this disorder connected with anesthesia. Patient concerns: We present a case involving a pregnant woman with DRD who continued levodopa/benserazide throughout the pregnancy. The perioperative anesthesia management was described. We used chloroprocaine 3% for epidural anesthesia during cesarean section. Diagnoses: Dopa-responsive dystonia Interventions: Levodopa/benserazide Outcomes: In summary, levodopa/benserazide was continued throughout our patient’s pregnancy with a good obstetric outcome, and chloroprocaine was safely used in epidural anesthesia without deterioration of her dystonic symptoms. Lessons: Chloroprocaine was safely used in epidural anesthesia without deterioration of her dystonic symptoms.

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Section: Discussionmentioning

confidence: 88%

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: A case report

Zhou,

Luo

2024

Medicine

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“…The onset of dystonia in childhood and progressive aggravation with diurnal uctuation. The classic phenotype of DRD is characterized by onset in childhood with walking di culties due to lower limb dystonia that progresses to generalized dystonia, concurrent or subsequent development of parkinsonism (mainly rigidity and bradykinesia), and possible complications with psychiatric symptoms such as dgetiness and depression 3,4 .…”

Section: Discussionmentioning

confidence: 99%

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: a case report

zhou,

Luo

2023

Preprint

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Background Dopa-responsive dystonia (DRD) is a rare autosomal dominant hereditary disorder with a prevalence of 0.5 per million population. The disease is characterized by onset of dystonia in childhood, progressive aggravation of the dystonia with diurnal fluctuation, and complete or near complete alleviation of symptoms with low-dose oral levodopa. The incidence of DRD is low, and only a few publications have described this disorder connected with anesthesia. Case presentation We present a case involving a pregnant woman with DRD who continued levodopa/benserazide throughout the pregnancy. The perioperative anesthesia management was described. We used chloroprocaine 3% for epidural anesthesia during cesarean section. Conclusion In summary, levodopa/benserazide was continued throughout our patient’s pregnancy with a good obstetric outcome, and chloroprocaine was safely used in epidural anesthesia without deterioration of her dystonic symptoms.

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“…Defects in nigrostriatal dopamine transmission have been firmly implicated in dystonia pathogenesis. Based on the nature of enzymatic defects they can be grouped in first, enzymatic defects in BH 4 metabolism: GTP cyclohydrolase 1 ( GCH1 ), sepiapterin reductase ( SPR ), dihydropteridine reductase, 6-pyruvoyl tetrahydropterin synthase ( PTS ), pterin-4a-carbinolamine dehydratase deficiencies; second, primary neurotransmitter synthesis defects: tyrosine hydroxylase, aromatic amino acid decarboxylase deficiency; third, monoamine transportopathies ( SLC6A3 and SLC18A2 ) [17,18 ▪ ].…”

Section: Dopamine Transmissionmentioning

confidence: 99%

The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes

Fonzo

Albanese

Jinnah

2022

Current Opinion in Neurology

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Purpose of reviewWe describe here how such mechanisms shared by different genetic forms can give rise to motor performance dysfunctions with a clinical aspect of dystonia.Recent findingsThe continuing discoveries of genetic causes for dystonia syndromes are transforming our view of these disorders. They share unexpectedly common underlying mechanisms, including dysregulation in neurotransmitter signaling, gene transcription, and quality control machinery. The field has further expanded to include forms recently associated with endolysosomal dysfunction.SummaryThe discovery of biological pathways shared between different monogenic dystonias is an important conceptual advance in the understanding of the underlying mechanisms, with a significant impact on the pathophysiological understanding of clinical phenomenology. The functional relationship between dystonia genes could revolutionize current dystonia classification systems, classifying patients with different monogenic forms based on common pathways. The most promising effect of these advances is on future mechanism-based therapeutic approaches.

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Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review

Cited by 8 publications

References 45 publications

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: A case report

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: A case report

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: a case report

The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes

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