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Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Author(s) -
Lehky Tanya,
Joseph Reversa,
Toro Camilo,
Wu Tianxia,
Van Ryzin Carol,
Gropman Andrea,
Facio Flavia M.,
Webb Bryn D.,
Jabs Ethylin W.,
Barry Brenda S.,
Engle Elizabeth C.,
Collins Francis S.,
Manoli Irini
Publication year - 2021
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.27159
Subject(s) - paresis , medicine , electromyography , polyneuropathy , myotonic dystrophy , facial nerve , facial muscles , weakness , myotonia , facial weakness , physical medicine and rehabilitation , mononeuropathy , peripheral neuropathy , pathology , surgery , anatomy , endocrinology , diabetes mellitus
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.