Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature
作者机构：Department of NeuroelectrophysiologyQilu Children’s Hospital of Shandong UniversityJinan 250000Shandong ProvinceChina Department of NeuroelectrophysiologyUniversity of Health and Rehabilitation Sciences(Qingdao Municipal Hospital)Qingdao 266000Shandong ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2024年第12卷第3期
页 面：587-595页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Paramyotonia congenita Channelopathy Electromyography Child Case report
摘 要：BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by *** identification of PMC often relies on electromyography(EMG),a diagnostic *** child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic *** distinctive observation had not surfaced in earlier *** SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from ***,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never *** myotonia was observable in bilateral *** symptoms remained unchanged after potassium-rich food consumption like *** periodic paralysis was *** magnetic resonance imaging yielded normal *** potassium remained within normal range,while creatine kinase showed slight ***-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917GA(p.G1306E).After a six-month mexiletine regimen,symptoms *** In this case revealed the two types of myotonic discharges,and had not been documented in other *** underscore two distinctive features:Giant-amplitude potentials and irregular waves.
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