Atypical Presentation of Dopa-responsive Dystonia in Taiwan

Overview

Journal Brain Behav

Specialty Psychology

Date 2018 Feb 28

PMID 29484265

Citations 6

Authors

Yi Ching Weng

Chun Chieh Wang

Yih Ru Wu

Affiliations

Soon will be listed here.

Abstract

The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa. The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation.

Citing Articles

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