Neurophysiological testing in congenital myasthenic syndromes: A systematic review of published normal data
Identifieur interne : 000487 ( Main/Exploration ); précédent : 000486; suivant : 000488Neurophysiological testing in congenital myasthenic syndromes: A systematic review of published normal data
Auteurs : Ana Kosac [Serbie] ; Erika Gavillet [Royaume-Uni] ; Roger G. Whittaker [Royaume-Uni]Source :
- Muscle & Nerve [ 0148-639X ] ; 2013-11.
Abstract
Introduction: Congenital myasthenic syndromes are a heterogeneous group of inherited neuromuscular disorders. Neurophysiological testing has a major role in screening suspected cases and guiding genetic testing. We performed a systematic literature review to ascertain whether sufficient age‐specific normative data exist for these techniques. Methods: We searched Ovid Medline (1948 to October 2012) for citations on repetitive nerve stimulation (RNS) or single fiber electromyography (SFEMG) in children. Results: We identified 5 articles containing data on 48 normal children studied with RNS and 1 article containing data on SFEMG in 20 normal children. A variety of techniques were used, including a variety of stimulation frequencies. Nevertheless, the data identify significant differences in the response to RNS in children as compared with adults, emphasizing the need for adequate age‐appropriate normal values. Conclusions: We found a paucity of published normal data for pediatric neuromuscular transmission studies. Further studies using standardized techniques are needed to expand the currently limited pool of available data. Muscle Nerve 48:711–715, 2013
Url:
DOI: 10.1002/mus.23929
Affiliations:
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<front><div type="abstract">Introduction: Congenital myasthenic syndromes are a heterogeneous group of inherited neuromuscular disorders. Neurophysiological testing has a major role in screening suspected cases and guiding genetic testing. We performed a systematic literature review to ascertain whether sufficient age‐specific normative data exist for these techniques. Methods: We searched Ovid Medline (1948 to October 2012) for citations on repetitive nerve stimulation (RNS) or single fiber electromyography (SFEMG) in children. Results: We identified 5 articles containing data on 48 normal children studied with RNS and 1 article containing data on SFEMG in 20 normal children. A variety of techniques were used, including a variety of stimulation frequencies. Nevertheless, the data identify significant differences in the response to RNS in children as compared with adults, emphasizing the need for adequate age‐appropriate normal values. Conclusions: We found a paucity of published normal data for pediatric neuromuscular transmission studies. Further studies using standardized techniques are needed to expand the currently limited pool of available data. Muscle Nerve 48:711–715, 2013</div>
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