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 - 2018/1/1
Y1 - 2018/1/1
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.
KW - Congenital myasthenic syndromes
KW - Myasthenia gravis
KW - Myopathy
KW - Neuromuscular junction
KW - Recommendations
UR - http://www.scopus.com/inward/record.url?scp=85058460034&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85058460034&partnerID=8YFLogxK
U2 - 10.1007/s10072-018-3682-x
DO - 10.1007/s10072-018-3682-x
M3 - Article
AN - SCOPUS:85058460034
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
ER -