Results 21 to 30 of about 16,650 (226)
Presynaptic Congenital Myasthenic Syndrome
Pediatric Neurology Briefs, 2001 Three patients (ages 7, 9, and 14 years) with a new form of presynaptic congenital myasthenic syndrome (CMS) are reported from the University of California, Davis; University of Minnesota; and the University of Chicago.
J Gordon Millichap
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Ain Shams Journal of Anesthesiology, 2023 Background The Lambert-Eaton myasthenic syndrome (LEMS) is a rare disorder characterized by proximal muscle weakness and autonomic dysfunction due to involvement of the neuromuscular junction A case of delayed unilateral recovery from spinal anesthesia ...
Souvik Mukherjee +3 more
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BMC Neurology, 2019 Background Myasthenia gravis associated takotsubo syndrome is a rare condition. This study aimed to explore its typical presentation, investigations and treatment through a systematic review of previously reported cases.
Devarajan Rathish, Minuri Karalliyadda
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CHRNE Mutation and Congenital Myasthenia
Pediatric Neurology Briefs, 2009 The CHRNE e1293insG mutation was identified in 14 (60%) of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.
J Gordon Millichap
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The congenital myasthenic syndromes
Journal of Neuroimmunology, 2008 The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined.
Palace, J, Beeson, D
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Case Reports in Oncology, 2012 We present the first case of small cell lung cancer with Lambert-Eaton myasthenic syndrome during hemodialysis (HD). A 72-year-old male patient receiving HD experienced progressive muscle weakness.
Taiji Kuwata +3 more
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Неотложная медицинская помощь, 2021 Myasthenia gravis is an autoimmune neuromuscular disease characterized by pathologically rapid fatigue of striated muscles [1]. The main symptom of myasthenia gravis is the presence of pathological muscle weakness with involvement of the ocular, bulbar ...
N. M. Kruglyakov +8 more
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Journal of the Royal College of Physicians of Edinburgh, 2011 The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases.
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Congenital myasthenic syndromes
Rinsho Shinkeigaku, 2012 Congenital myasthenic syndromes (CMS) are caused by germline mutations of molecules expressed at the neuromuscular junction (NMJ). Mutations in 11 molecules encoded by 15 genes have been reported in association with CMS. CMS can be classified into four clinical categories.
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Congenital myasthenic syndromes
Current Opinion in Neurology, 1997 Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our ...
Beeson, D, Palace, J, Vincent, A
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