Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

ABSTRACT:

Introduction

Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW.

Methods

Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDx evaluations, including blink reflex and facial and peripheral nerve conduction studies, with optional needle electromyography.

Results

MBS and hereditary congenital facial paresis (HCFP) subjects had low-amplitude cranial nerve 7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants

SUBMITTER: Lehky T 

PROVIDER: S-EPMC8353595 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature