Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias
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چکیده
منابع مشابه
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses.
Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysi...
متن کاملNovel insights into the pathomechanisms of skeletal muscle channelopathies.
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presen...
متن کاملMuscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?
Hypokalaemic periodic paralysis (hypoPP) is the archetypal skeletal muscle channelopathy caused by dysfunction of one of two sarcolemmal ion channels, either the sodium channel Nav1.4 or the calcium channel Cav1.1. Clinically, hypoPP is characterised by episodes of often severe flaccid muscle paralysis, in which the muscle fibre membrane becomes electrically inexcitable, and which may be precip...
متن کاملAre myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
Excised muscles from patients with myotonia or periodic paralysis were subjected to the in vitro contracture test for susceptibility to malignant hyperthermia (MH). In a group of 44 patients, this standard test gave four positive, 10 equivocal and 30 negative results. The results for 27 control muscles from normal subjects were negative. When the test was performed with less than normal concent...
متن کاملNon-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany.
Our understanding of the pathology of the nondystrophic myotonias and the periodic paralyses has profited immensely from the use of modern electrophysiology (three microelectrode voltage clamp, patch-clamp techniques) and molecular biology (candidate gene approaches in contrast to reverse genetics in other neuromuscular diseases). In the past few years it has become clear that--apart from the n...
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ژورنال
عنوان ژورنال: Current Opinion in Neurology
سال: 2009
ISSN: 1350-7540
DOI: 10.1097/wco.0b013e32832efa8f