Results 171 to 180 of about 16,650 (226)

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

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

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

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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Myasthenic Syndrome in Polymyositis

European Neurology, 2008
The case report of a 23-year-old man with polymyositis and some myasthenic features is presented. The biopsy findings suggest a preferential involvement of the neuromuscular junctions by the inflammatory process, a fact which explains the clinical syndrome.
J, De Reuck, E, Thiery, W, De Coster, H, Van Der Eecken   +3 more
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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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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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Lambert-Eaton Myasthenic Syndrome

Revue Neurologique, 1985
The Lambert-Eaton Myasthenic Syndrome (LEMS) is characterised by proximal muscle weakness initially affecting gait, autonomic symptoms (dry mouth, constipation, erectile failure), augmentation of strength during initial voluntary activation, and depressed tendon reflexes with post-tetanic potentiation.
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Congenital myasthenic Syndromes

1999
Abstract Congenital myasthenic syndromes (CMS) are neither new nor uncommon disorders. In 1937, Rothbart described four brothers under the age of 2 years with a myasthenic disorder, and by 1972 Sarah Bundey was able to collect 97 familial cases of myasthenia with onset before the age of 2 years.
A.G. Engel, K. Ohno, A.A. Stans
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