Tanya Lehky1, Reversa Joseph1,2, Camilo Toro3, Tianxia Wu4, Carol Van Ryzin5, Andrea Gropman6, Flavia M Facio5, Bryn D Webb7, Ethylin W Jabs7, Brenda S Barry8,9, Elizabeth C Engle8,9,10, Francis S Collins11, Irini Manoli5. 1. EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 2. Chalmers P. Wylie Veterans Administration, Columbus, Ohio, USA. 3. Undiagnosed Disease Program, OCD, NHGRI, NIH, Bethesda, Maryland, USA. 4. Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 5. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. 6. Neurodevelopmental Pediatrics and Neurogenetics, Children's National Medical Center, Washington, District of Columbia, USA. 7. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 8. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA. 9. Howard Hughes Medical Institute, Chevy Chase, Maryland, USA. 10. Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. 11. Medical Genomics and Metabolic Genetics Branch, Immediate Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
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 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.
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.
Authors: Caroline B Michielse; Meena Bhat; Angela Brady; Hussain Jafrid; José A J M van den Hurk; Yasmin Raashid; Han G Brunner; Hans van Bokhoven; George W Padberg Journal: Eur J Hum Genet Date: 2006-08-16 Impact factor: 4.246
Authors: H T Verzijl; B van den Helm; B Veldman; B C Hamel; L P Kuyt; G W Padberg; H Kremer Journal: Am J Hum Genet Date: 1999-09 Impact factor: 11.025
Authors: Sarah MacKinnon; Darren T Oystreck; Caroline Andrews; Wai-Man Chan; David G Hunter; Elizabeth C Engle Journal: Ophthalmology Date: 2014-03-06 Impact factor: 12.079
Authors: Mary C Whitman; Brenda J Barry; Caroline D Robson; Flavia M Facio; Carol Van Ryzin; Wai-Man Chan; Tanya J Lehky; Audrey Thurm; Christopher Zalewski; Kelly A King; Carmen Brewer; Konstantinia Almpani; Janice S Lee; Angela Delaney; Edmond J FitzGibbon; Paul R Lee; Camilo Toro; Scott M Paul; Omar A Abdul-Rahman; Bryn D Webb; Ethylin Wang Jabs; Hans Ulrik Moller; Dorte Ancher Larsen; Jayne H Antony; Christopher Troedson; Alan Ma; Glad Ragnhild; Katrine V Wirgenes; Emma Tham; Malin Kvarnung; Timothy James Maarup; Sarah MacKinnon; David G Hunter; Francis S Collins; Irini Manoli; Elizabeth C Engle Journal: Hum Genet Date: 2021-10-15 Impact factor: 4.132