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- W4378082505 abstract "A developmentally normal 8-year-old girl with nonconsanguineous parents was presented to the pediatric neurology clinic with difficulty in climbing stairs and running and frequent falls for 2 years. Examination revealed polyminimyoclonus (see video), bilateral calf hypertrophy, proximal girdle weakness, and areflexia with no tongue fasciculations. Anterior horn cell disease was suspected. Electrocardiogram (ECG), which was performed to check the fasciculations of intercostal muscles, revealed tremors in the isoelectric line (Fig. 1). SMN1 gene sequencing showed pathogenic homozygous deletions in exons 7 and 8. Furthermore, the diagnosis confirmed spinal muscular atrophy (SMA) type III. The patient is currently on physiotherapy and awaiting definitive therapy for SMA. ECG tremors reflect the fasciculations of somatic muscles caused by chronic reinnervation of the motor neurons.1Webb G.J. Turner M.R. Craig S.E. Teaching NeuroImages: somatic muscle fasciculations detected by electrocardiography.Neurology. 2012; 78: e19Crossref PubMed Google Scholar ECG tremors occur in SMA type III (up to 60% of patients), poliomyelitis, and amyotrophic lateral sclerosis.2Haliloglu G. Gungor M. Anlar B. The role of electrocardiography in the diagnosis of spinal muscular atrophy type III.J Pediatr. 2015; 166: 1092Abstract Full Text Full Text PDF Scopus (2) Google Scholar Thus, this can be used as a noninvasive diagnostic clue to avoid the need for invasive diagnostics, including electromyography and nerve conduction studies . The following is/are the supplementary data related to this article:eyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiIxY2FkNzQwZDQ5NzgwNDNiOTE2NDM1OWQxMGU4YjJmOSIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNjg3ODExMzcyfQ.mwkuFiddirDZkRIhtoUaPRxi-pxw4cKjGzlypvbvFHIgmI5i_IVWeLMcSOSz3AzcjE8EP-RXLg4stbf_oSe97YULlLmMDfF__JSLDzqGm4ceJxgKHnX_6NMesuinzsH9wdUbl33px2-9cESCkwoBEBrqGpgPG2UTgXdY7TA2-nZ0C40Tef6IKnaJ0g61n0ENR5h38Wnf43RtIM3Wg1XaJfL_FdfxtFpfx9gPwcTZHBAZ3VPSXPCFdfwYhkiC7WJbBmJ0xEryCs2BeiVe8k8LwzaO7ueBrOrf6BcBKtz92dDjO9Msix66h3JkvulzLw7W-STEhd6r3R-ca8i2J1gPsg(mp4, (3.03 MB) Download video eyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiIxY2FkNzQwZDQ5NzgwNDNiOTE2NDM1OWQxMGU4YjJmOSIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNjg3ODExMzcyfQ.mwkuFiddirDZkRIhtoUaPRxi-pxw4cKjGzlypvbvFHIgmI5i_IVWeLMcSOSz3AzcjE8EP-RXLg4stbf_oSe97YULlLmMDfF__JSLDzqGm4ceJxgKHnX_6NMesuinzsH9wdUbl33px2-9cESCkwoBEBrqGpgPG2UTgXdY7TA2-nZ0C40Tef6IKnaJ0g61n0ENR5h38Wnf43RtIM3Wg1XaJfL_FdfxtFpfx9gPwcTZHBAZ3VPSXPCFdfwYhkiC7WJbBmJ0xEryCs2BeiVe8k8LwzaO7ueBrOrf6BcBKtz92dDjO9Msix66h3JkvulzLw7W-STEhd6r3R-ca8i2J1gPsg(mp4, (3.03 MB) Download video" @default.
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- W4378082505 date "2023-05-01" @default.
- W4378082505 modified "2023-10-16" @default.
- W4378082505 title "ECG tremors and polyminimyoclonus of spinal muscular atrophyType-III" @default.
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- W4378082505 doi "https://doi.org/10.1016/j.pedneo.2023.03.007" @default.
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