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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 +2 more
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1996
This chapter deals with disorders of the neuromuscular junction including myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital disorders of neuromuscular transmission (CDNT). The pathophysiologies of these disorders lie at the presynaptic nerve terminal and the specialized structures located on the postsynaptic skeletal ...
Henry J. Kaminski, Robert L. Ruff
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This chapter deals with disorders of the neuromuscular junction including myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital disorders of neuromuscular transmission (CDNT). The pathophysiologies of these disorders lie at the presynaptic nerve terminal and the specialized structures located on the postsynaptic skeletal ...
Henry J. Kaminski, Robert L. Ruff
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Lambert–Eaton myasthenic syndrome
British Journal of Hospital Medicine, 2009A 64-year-old man presented with proximal lower limb muscle weakness that had ascended over 3 months to involve the upper limb, bulbar and periocular muscles. In addition, he had muscle aches, dry eyes and mouth, with 10 kg of weight loss. He was an ex-smoker of 50 pack-years.
Yi Zhen, Chiang +2 more
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Botulism, Lambert-Eaton Myasthenic Syndrome, and Congenital Myasthenic Syndromes
ContinuumThis 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 SYNDROME
2003CMS 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
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Myasthenia gravis and myasthenic syndrome
Neurological Sciences, 2003Myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) are autoimmune ion channel disorders mediated by antibodies to postsynaptic acetylcholine receptors and presynaptic voltage-operated calcium channels, respectively. MG and LEMS are currently treated with corticosteroids and immunosuppressive drugs with a positive clinical outcome ...
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Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome: New Developments in Diagnosis and Treatment
Neuropsychiatric Disease and Treatment, 2022Robert M Pascuzzi
exaly
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features
Journal of Child Neurology, 2021Partha S Ghosh
exaly