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- W2316666738 abstract "Congenital myasthenic syndromes (CMSs) cover a group of heterozygous disorders in which the neuromuscular transmission is affected. As clinical features, like tired- and weakness in a young child, are rather a specific and do not always guide towards a CMS, the diagnostic studies leading to a diagnosis can be very challenging. We describe our diagnostic work up and show our struggles in eight children suffering from tiredness, exhaustion and muscle weakness. Common diagnostic pitfalls, causing delay in diagnosis and treatment, are the lack of specificity of clinical features, false negative elektromyography (EMG) results, non-specific changes in muscle histology and technical drawbacks of invasive testing in young children. We discovered five mutations in the CHRNE gene, two in the RAPSYN gene and one mutation in DPAGT1, so finally DNA confirmed diagnosis of CMS was made. We started with medications what considerably improve the quality of live. Clinicians are urged to perform tailored genetic testing guided by clinical features. CMSs are highly treatable and early initiation of treatment can considerably improve the quality of life of patients with a CMS." @default.
- W2316666738 created "2016-06-24" @default.
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- W2316666738 date "2013-10-01" @default.
- W2316666738 modified "2023-09-25" @default.
- W2316666738 title "P.12.1 Diagnostic pitfalls in congenital myasthenic syndromes in children: Clinical experience in an academic neuromuscular centre" @default.
- W2316666738 doi "https://doi.org/10.1016/j.nmd.2013.06.583" @default.
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