Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

ABSTRACT:

Objective

To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder.

Methods

We performed detailed clinical examination of the family and electrophysiology to characterize the myoclonus. We performed analysis of the TH gene and in silico prediction of the possible effect of nonsynonymous substitutions on protein structure.

Results

Electrophysiology suggested that the myoclonus was of subcortical origin. Genetic analysis of the TH gene revealed compound hete

SUBMITTER: Stamelou M 

PROVIDER: S-EPMC3405253 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature