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

and the Moebius Syndrome Research Consortium

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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 in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter syndrome, myotonic dystrophy, other undefined myopathies, or CFW with arthrogryposis, ophthalmoplegia, and other system involvement. Discussion: EDx in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling.

Original languageEnglish
Pages (from-to)516-524
Number of pages9
JournalMuscle and Nerve
Issue number4
StatePublished - Apr 2021


  • Carey-Fineman-Ziter syndrome, CFEOM3A-TUBB3 mutation, congenital cranial dysinnervation disorders, facial nerve palsy, hereditary congenital facial paresis, Moebius syndrome


Dive into the research topics of 'Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies'. Together they form a unique fingerprint.

Cite this