Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects.

ABSTRACT:

Background and objectives

Neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV) is a recently described rare syndrome caused by loss-of-function variations in CTNNB1 gene which includes developmental delay, intellectual deficiency, visual defects, and other features. Startle disease is not present in the classic clinical description and has been reported in only 2 patients so far.

Methods

We report 12 cases of patients with NEDSDV who present an exaggerated startle response including 1 patient observed in our department and 11 patients recruited by addressing a questionnaire to the members of the Facebook group of families of patients with a CTNNB1 pathogenic variant. We performed an EMG analysis of this abnormal startle response in 1 pat

SUBMITTER: Bulot V 

PROVIDER: S-EPMC9679886 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature