Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies,Muscle & Nerve

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Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Muscle & Nerve ( IF 2.8 ) Pub Date : 2021-01-02 , DOI: 10.1002/mus.27159
Tanya Lehky ₁ , Reversa Joseph _{1,

2} , Camilo Toro ₃ , Tianxia Wu ₄ , Carol Van Ryzin ₅ , Andrea Gropman ₆ , Flavia M Facio ₅ , Bryn D Webb ₇ , Ethylin W Jabs ₇ , Brenda S Barry _{8,

9} , Elizabeth C Engle _{8,

9,

10} , Francis S Collins ₁₁ , Irini Manoli ₅ ,

Affiliation

EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Chalmers P. Wylie Veterans Administration, Columbus, Ohio, USA.
Undiagnosed Disease Program, OCD, NHGRI, NIH, Bethesda, Maryland, USA.
Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Neurodevelopmental Pediatrics and Neurogenetics, Children's National Medical Center, Washington, District of Columbia, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Medical Genomics and Metabolic Genetics Branch, Immediate Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

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.

中文翻译：

通过电诊断研究区分 Moebius 综合征和其他先天性面部无力疾病

先天性面肌无力 (CFW) 可能由面神经麻痹引起，伴或不伴其他颅神经和全身受累，或全身性神经病和肌病。Moebius 综合征是 CFW 的一种。在这项研究中，我们探讨了电诊断研究 (EDx) 在评估 CFW 个体中的效用。

更新日期：2021-01-02

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