A Novel Pattern of Dystonia in DYT-VPS16: "Speaking in Tongues".

ABSTRACT:

Objectives

To expand the phenotype and genotype of VPS16-related dystonia (DYT-VPS16).

Methods

We report 2 patients with previously unreported VPS16 truncating variants and highlight some distinctive phenomenological characteristics of DYT-VPS16.

Results

The 2 patients, who were unrelated, presented with early-onset orofacial dystonia with prominent tongue involvement. Case 1, a 37-year-old woman, developed disabling orofacial dystonia, with tongue protrusion (lingual dystonia), orofacial gesticulations, and hyperkinetic dysarthria, responsible for an odd "foreign language" quality. Case 2, a 36-year-old woman, exhibited orofacial dystonia with prominent lingual involvement and orofacial gesticulations. In both patients, orofacial dystonia

SUBMITTER: Desjardins C 

PROVIDER: S-EPMC11262712 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature