Results 161 to 170 of about 2,996 (188)

Pregnancy in congenital myasthenic syndrome

Journal of Neurology, 2012
Some case reports have suggested possible worsening of the clinical condition of patients with congenital myasthenic syndromes (CMS) during pregnancy. However, this risk has not yet been quantified in a significant number of patients. Using a standardized report form, we reviewed the gynecological and obstetrical medical history of all patients with ...
L, Servais, H, Baudoin, K, Zehrouni, P, Richard, D, Sternberg, E, Fournier, B, Eymard, T, Stojkovic   +7 more
openaire   +2 more sources

Therapeutic strategies for congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 2018
To date, more than 25 genes have been implicated in the etiology of the congenital myasthenic syndromes (CMS), and an ever-growing phenotypic landscape is now encountered in the CMS clinic.
David Beeson, Jacqueline Palace
exaly   +2 more sources

Congenital Myasthenic Syndromes

2008
The neuromuscular junction is a prototypic synapse that has been extensively studied and provides a model for smaller and less accessible central synapses. Central to transmission at the neuromuscular synapse is the muscle acetylcholine receptor cation channel.
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Congenital myasthenic syndromes

Congenital myasthenic syndromes (CMS) result from impaired neuromuscular transmission and are due to genetic mutations in one of several genes involved in the development, function, or maintenance of the neuromuscular junction (NMJ). The clinical presentation, age of onset, and prognosis can vary significantly depending on the underlying genetic defect.
Sally, Spendiff, Hanns, Lochmüller, Ricardo A, Maselli   +2 more
openaire   +3 more sources

Congenital Myasthenic Syndromes in 2018

Current Neurology and Neuroscience Reports, 2018
Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years.Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2 ...
openaire   +2 more sources

CONGENITAL MYASTHENIC SYNDROME

2003
CMS are genetically determined disorders affecting safety margins of neural transmission at presynaptic, postsynaptic and synaptic level. Diagnosis of CMS is made on clinical symptoms including fatiguable muscle weakness since infancy or childhood, decremental EMG response and negative AChR antibodies. In some CMS the onset is delayed, weakness and EMG
openaire   +1 more source

Botulism, Lambert-Eaton Myasthenic Syndrome, and Congenital Myasthenic Syndromes

Continuum
This article covers the clinical presentations, investigations, differential diagnosis, and principles of management of botulism, Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes.Well-recognized guidelines exist for the management of botulism and LEMS, but resource limitations may affect implementation globally.
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Congenital myasthenic syndromes: A study of 15 cases

Neurology and Clinical Neuroscience, 2023
Satish Khadilkar, Harsh Oza
exaly  

Congenital Myasthenic Syndrome

2014
Congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission. Fetal manifestations (hydramnios and arthrogryposis) are sometimes present. The onset occurs usually during the neonatal period but sometimes also in childhood, adolescence, or even adulthood.
openaire   +1 more source

CONGENITAL MYASTHENIC SYNDROMES (CMS)

2003
CMS are genetically determined disorders affecting safety margins of neural transmission at presynaptic, postsynaptic and synaptic level. Diagnosis of CMS is made on clinical symptoms including fatiguable muscle weakness since infancy or childhood, decremental EMG response and negative AChR antibodies. In some CMS the onset is delayed, weakness and EMG
openaire   +2 more sources