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Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

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Title: Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
Authors: Maggi, Lorenzo (AUTHOR), Bernasconi, Pia (AUTHOR), D'Amico, Adele (AUTHOR), Brugnoni, Raffaella (AUTHOR), Fiorillo, Chiara (AUTHOR), Garibaldi, Matteo (AUTHOR), Astrea, Guja (AUTHOR), Bruno, Claudio (AUTHOR), Santorelli, Filippo Maria (AUTHOR), Liguori, Rocco (AUTHOR), Antonini, Giovanni (AUTHOR), Evoli, Amelia (AUTHOR), Bertini, Enrico (AUTHOR), Rodolico, Carmelo (AUTHOR), Mantegazza, Renato (AUTHOR)
Source: Neurological Sciences. Mar2019, Vol. 40 Issue 3, p457-468. 12p. 1 Diagram, 4 Charts.
Subjects: Congenital myasthenic syndromes, Genetic disorders, Neuromuscular diseases, Myoneural junction, Myasthenia gravis, Differential diagnosis, Myasthenia gravis treatment, Health planning, Disease management
Geographic Terms: Italy
Abstract: Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties. Because of the several therapeutic opportunities, CMS should be always considered in the differential diagnosis of neuromuscular disorders. The Italian Network on CMS proposes here recommendations for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: <searchLink fieldCode="DE" term="%22Congenital+myasthenic+syndromes%22">Congenital myasthenic syndromes</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Myoneural+junction%22">Myoneural junction</searchLink><br /><searchLink fieldCode="DE" term="%22Myasthenia+gravis%22">Myasthenia gravis</searchLink><br /><searchLink fieldCode="DE" term="%22Differential+diagnosis%22">Differential diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Myasthenia+gravis+treatment%22">Myasthenia gravis treatment</searchLink><br /><searchLink fieldCode="DE" term="%22Health+planning%22">Health planning</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+management%22">Disease management</searchLink>
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  Data: Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties. Because of the several therapeutic opportunities, CMS should be always considered in the differential diagnosis of neuromuscular disorders. The Italian Network on CMS proposes here recommendations for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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