Neurophysiological testing in congenital myasthenic syndromes: A systematic review of published normal data

• Published in: Muscle & nerve 2013-11, Vol.48 (5), p.711-715
• Main Authors: Kosac, Ana, Gavillet, Erika, Whittaker, Roger G.
• Format: Article
• Language: English
• Subjects: Children; congenital myasthenic syndrome; decrement; repetitive nerve stimulation; single fiber electromyography
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.23929

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