Results 151 to 160 of about 2,996 (188)

Congenital myasthenic syndromes

European Journal of Paediatric Neurology, 2003
Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission. This chapter discusses the clinical and electrophysiological manifestations of these relatively rare disorders as well as their pathophysiology, genetics, and management.
Andrew G, Engel, Kinji, Ohno
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Congenital Myasthenic Syndromes

Neurologic Clinics, 2018
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic terminal, the synaptic cleft, or the postsynaptic terminal. Many of these syndromes present within the first
Perry B, Shieh, Shin J, Oh
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Congenital myasthenic syndromes

Current Opinion in Neurology, 2013
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The characterization of CMS comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of CMS.
Bruno, Eymard, Daniel, Hantaï, Brigitte, Estournet   +2 more
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The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

Neuropediatrics, 2017
Copyright \ua9 2017, Georg Thieme Verlag KG. All rights reserved. The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result in an increasing range of phenotypes, but which are all due to inherited defects at the ...
Angela Abicht, Teresinha Evangelista, Sally Spendiff   +2 more
exaly   +3 more sources

Congenital myasthenic syndromes

Seminars in Pediatric Neurology, 2002
Congenital myasthenic syndromes (CMS) constitute a heterogenous group of inherited disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. Clinical evidence for the diagnosis of a CMS includes a history of increased fatigable weakness since infancy or early childhood, a decremental EMG response, and the absence ...
Joern P, Sieb, Simone, Kraner, Ortrud K, Steinlein   +2 more
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Congenital myasthenic syndromes

Journal of Clinical Neuroscience, 2009
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction. The defects interfere with presynaptic, synaptic, or postsynaptic function and compromise neuromuscular transmission.
Joseph H, Nogajski, Matthew C, Kiernan, Robert A, Ouvrier, P Ian, Andrews   +3 more
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Congenital Myasthenic Syndromes

Neuromuscular Disorders, 1993
The Congenital Myasthenic Syndromes (CMS) constitute a group of rare genetic disorders affecting neuromuscular transmission. They differ from myasthenia gravis and the Lambert-Eaton myasthenic syndrome, which are autoimmune antibody-mediated conditions.
P, Shillito, A, Vincent, J, Newsom-Davis
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Congenital Myasthenic Syndromes

Electroencephalography and Clinical Neurophysiology, 1985
By the mid-1970s the autoimmune origin of myasthenia gravis had been well established. Once this feat had been accomplished, it also became apparent that myasthenic disorders occurring in a genetic or congenital setting had a different etiology.
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Congenital Myasthenic Syndromes

Neurologic Clinics, 2020
Congenital myasthenic syndromes comprise a rare heterogeneous group of diseases that impair neuromuscular transmission and are characterized by muscle fatigability and transient or permanent weakness. Symptoms are often present from birth or early childhood. These syndromes have a wide range of phenotypes and severity.
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The Spectrum of Congenital Myasthenic Syndromes

Molecular Neurobiology, 2002
The past decade saw remarkable advances in defining the molecular and genetic basis of the congenital myasthenic syndromes. These advances would not have been possible without antecedent clinical observations, electrophysiologic analysis, and careful morphologic studies that pointed to candidate genes or proteins.
Andrew G, Engel, Kinji, Ohno, Steven M, Sine   +2 more
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