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  • Title: Mobius syndrome: electrophysiologic studies in seven cases.
    Author: Jaradeh S, D'Cruz O, Howard JF, Haberkamp TJ, Konkol RJ.
    Journal: Muscle Nerve; 1996 Sep; 19(9):1148-53. PubMed ID: 8761272.
    Abstract:
    Mobius syndrome is characterized by congenital facial diplegia, frequent impairment of gaze, variable involvement of other cranial muscles, and various musculoskeletal anomalies. The site of dysfunction remains debatable. We performed detailed electrophysiologic studies in 5 children and 2 adults with Mobius syndrome to better delineate the pathophysiology of this disorder. Sensory and motor conduction studies were normal in the extremities. Facial compound muscle action potential amplitudes were reduced in all patients. The blink reflex R1 responses were unobtainable unilaterally in 2 patients and unobtainable bilaterally in 3 patients. Otherwise, R1 and R2 latencies were variably prolonged. The jaw jerk and masseter silent periods, tested in 2 patients, were normal. Detailed electromyographic studies of facial muscles revealed multifocal, chronic neurogenic changes. The findings indicate a brain stem process predominantly affecting the facial nuclei and their internuclear connections rather than a supranuclear or muscular site of involvement.
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