Muscle specific kinase autoimmune myasthenia gravis in children: A case series |
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Authors: | Karen L. Skjei Vanda A. Lennon Nancy L. Kuntz |
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Affiliation: | 2. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan;3. Department of Neurology, National Hospital Organization Kure Medical Center, Hiroshima, Japan;4. Department of Neurology, Brain Attack Center Ota Memorial Hospital, Hiroshima, Japan;1. Department of Pathology, Division of Pathophysiological and Experimental Pathology, Graduate School of Medical Sciences, Kyushu University 812-8582, Fukuoka, Japan;2. Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;3. Research Institute for Diseases of the Chest, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;1. Neurology Department, Institute of Neurological Sciences, Queen Elizabeth University Hospital, 1345, Govan Road, Glasgow G51 4TF, UK;2. Orthoptic Department, Gartnavel General Hospital, 1054, Great Western Road, Glasgow G12 0YN, UK |
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Abstract: | We report clinical, neurophysiological and autoantibody profiles of 9 children presenting with fatigable weakness and MuSK autoantibody seropositivity. Eight were female, 3 were black; median onset age was 8 years. Diplopia or bulbar dysfunction were common presenting symptoms. Half of the patients experienced moderate to severe weakness of bulbar, facial and respiratory muscles (including exacerbations requiring mechanical ventilation). Muscle AChR antibodies were detected transiently in 2 patients but no other autoantibodies were detected. Clinical response to treatment was variable and incomplete. No thymic abnormalities were noted by CT or pathologically (3 underwent thymectomy). Electromyographic (EMG) abnormalities (decrement of compound muscle action potential amplitude during slow repetitive nerve stimulation and variation in individual motor unit potentials) were limited to clinically weak muscles. Single fiber EMG demonstrated abnormalities in an asymptomatic muscle in the single patient studied. As in adults, MuSK autoimmune MG presents more commonly in females, and weakness preferentially affects bulbar, facial and respiratory muscles. Morbidity is significant and responses to standard therapies are variable and incomplete. Neurophysiological confirmation is more challenging in children because testing of weak muscles (cranial nerve-innervated and respiratory) may require moderate sedation and monitoring. |
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Keywords: | Autoimmune myasthenia gravis Muscle-specific kinase autoantibodies Children Electromyography |
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