Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.

ABSTRACT: Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inborn error of metabolism, and see whether they can serve as an additional clue in the diagnosis of particularly late-onset inborn errors of metabolism. Demographics, disease characteristics, and treatment data were collected. All patients underwent a standardized videotaped neurological examination and a video-oculography. Videos are included. We included 37 patients with 15 different inborn errors

SUBMITTER: Koens LH 

PROVIDER: S-EPMC9541348 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature