Format

Send to

Choose Destination
Brain Behav. 2018 Jan 20;8(2):e00906. doi: 10.1002/brb3.906. eCollection 2018 Feb.

Atypical presentation of dopa-responsive dystonia in Taiwan.

Author information

1
Department of Neurology Chang Gung Memorial Hospital Chang-Gung University College of Medicine Taipei Taiwan.

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 GCH1 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.

KEYWORDS:

Segawa disease; atypical presentation; dopa‐responsive dystonia; onset age; parkinsonian

PMID:
29484265
PMCID:
PMC5822572
DOI:
10.1002/brb3.906
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center