منابع مشابه
Myasthenic syndromes.
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. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles...
متن کاملCongenital myasthenic syndromes.
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 understanding of neuromuscular transmission.
متن کاملCongenital myasthenic syndromes.
PURPOSE OF REVIEW Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. RECENT FINDINGS Besides...
متن کاملDrug-induced myasthenic syndromes
Drug-induced myasthenic syndromes are caused by numerous medications of various classes. D-penicillamine and interferon alpha lead to an autoimmune process similar to spontaneous myasthenia gravis, whereas many other agents produce weakness by a direct compromise of neuromuscular transmission. A particular problem in clinical practice is the deterioration of neuromuscular transmission by anesth...
متن کاملcongenital myasthenic syndromes
congenital myasthenic syndromes (cms) are a group of diseases caused by genetic defects affecting neuromuscular transmission and are heterogeneous in inheritance and pathophysiology. these are classified as: 1. presynaptic defects: including choline acetyl transferase deficiency, paucity of synaptic vesicles, lambert-eaton like cms 2. synaptic defect: endplate ach esterase deficiency 3. postsyn...
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ژورنال
عنوان ژورنال: Journal of the Royal College of Physicians of Edinburgh
سال: 2011
ISSN: 2042-8189,1478-2715
DOI: 10.4997/jrcpe.2011.111