Autosomal dominant dopa-responsive dystonia (Q99659): Difference between revisions
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Este transtorno envolve contrações musculares involuntárias, tremores e outros movimentos descontrolados (distonia). Os pacientes costumam ter flutuações diurnas com piora à tarde e melhora pela manhã. O parkinsonismo pode ocorrer em pessoas mais velhas da família. É herdada de forma autossômica dominante e costuma responder ao tratamento com L-Dopa. É também chamada de doença de Segawa. Ocorre devido a uma mutação no gene GTP ciclo-hidrolase, ou às vezes devido a variações em outros genes. | |||
| description / en | description / en | ||
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes. | |||
Revision as of 16:19, 16 August 2026
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1143673207 |
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| English | Autosomal dominant dopa-responsive dystonia |
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes. |
