Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Lorenzo Maggi, Pia Bernasconi, Adele D'Amico, Raffaella Brugnoni, Chiara Fiorillo, Matteo Garibaldi, Guja Astrea, Claudio Bruno, Filippo Maria Santorelli, Rocco Liguori, Giovanni Antonini, Amelia Evoli, Enrico Bertini, Carmelo Rodolico, Renato Mantegazza

Research output: Contribution to journalArticle

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.

Original languageEnglish
Number of pages12
JournalNeurological Sciences
DOIs
Publication statusE-pub ahead of print - Dec 15 2018

Fingerprint

Congenital Myasthenic Syndromes
Inborn Genetic Diseases
Neuromuscular Junction
Differential Diagnosis
Mutation

Cite this

Italian recommendations for diagnosis and management of congenital myasthenic syndromes. / Maggi, Lorenzo; Bernasconi, Pia; D'Amico, Adele; Brugnoni, Raffaella; Fiorillo, Chiara; Garibaldi, Matteo; Astrea, Guja; Bruno, Claudio; Santorelli, Filippo Maria; Liguori, Rocco; Antonini, Giovanni; Evoli, Amelia; Bertini, Enrico; Rodolico, Carmelo; Mantegazza, Renato.

In: Neurological Sciences, 15.12.2018.

Research output: Contribution to journalArticle

@article{bccfd27c6fab40128948ac0d7482a779,
title = "Italian recommendations for diagnosis and management of congenital myasthenic syndromes",
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.",
author = "Lorenzo Maggi and Pia Bernasconi and Adele D'Amico and Raffaella Brugnoni and Chiara Fiorillo and Matteo Garibaldi and Guja Astrea and Claudio Bruno and Santorelli, {Filippo Maria} and Rocco Liguori and Giovanni Antonini and Amelia Evoli and Enrico Bertini and Carmelo Rodolico and Renato Mantegazza",
year = "2018",
month = "12",
day = "15",
doi = "10.1007/s10072-018-3682-x",
language = "English",
journal = "Neurological Sciences",
issn = "1590-1874",
publisher = "Springer-Verlag Italia s.r.l.",

}

TY - JOUR

T1 - Italian recommendations for diagnosis and management of congenital myasthenic syndromes

AU - Maggi, Lorenzo

AU - Bernasconi, Pia

AU - D'Amico, Adele

AU - Brugnoni, Raffaella

AU - Fiorillo, Chiara

AU - Garibaldi, Matteo

AU - Astrea, Guja

AU - Bruno, Claudio

AU - Santorelli, Filippo Maria

AU - Liguori, Rocco

AU - Antonini, Giovanni

AU - Evoli, Amelia

AU - Bertini, Enrico

AU - Rodolico, Carmelo

AU - Mantegazza, Renato

PY - 2018/12/15

Y1 - 2018/12/15

N2 - 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.

AB - 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.

U2 - 10.1007/s10072-018-3682-x

DO - 10.1007/s10072-018-3682-x

M3 - Article

C2 - 30554356

JO - Neurological Sciences

JF - Neurological Sciences

SN - 1590-1874

ER -