نتایج جستجو برای: myotonic discharges
تعداد نتایج: 16638 فیلتر نتایج به سال:
BACKGROUND Myotonic dystrophy, the most common form of adult dystrophy, has been shown to be caused by amplification of CTG triplet repeat in the 3' untranslated region of a protein kinase gene located on chromosome 19. Impaired glucose metabolism has been suggested as a possible explanation of brain and skeletal muscle involvement in this multisystem disease. We investigated whether myocardial...
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Two known genetic subtypes include DM1 (myotonic dystrophy type 1) and DM2 (myotonic dystrophy type 2). Genetic testing is considered as the only reliable diagnostic criterion in myotonic dystrophies. Relatively little is known about DM1 and DM2 myopathology. Thus, the aim of our study was to characterise light and electro...
Myotonic dystrophy type 1 is a complex multisystemic inherited disorder, which displays multiple debilitating neurological manifestations. Despite recent progress in the understanding of the molecular pathogenesis of myotonic dystrophy type 1 in skeletal muscle and heart, the pathways affected in the central nervous system are largely unknown. To address this question, we studied the only trans...
Drug-induced rhabdomyolysis during pregnancy is extremely rare. We report here a rare case of ritodrine-hydrochloride-induced rhabdomyolysis in a pregnant patient with myotonic dystrophy. A 32-year-old primigravida was admitted because of premature labor at 31 weeks of gestation. She had been diagnosed as having myotonic dystrophy by electromyographic investigations and abnormal serum creatinin...
OBJECTIVES To seek cerebral metabolite abnormalities in patients with myotonic dystrophy and to determine whether the degree of cerebral abnormalities (measured by proton magnetic resonance spectroscopy) correlates with severity of the genetic defect (measured by trinucleotide repeats). DESIGN Fourteen patients with myotonic dystrophy were compared with 24 healthy control subjects. SETTING ...
Myotonic dystrophy (DM) almost always results from the expansion of an unstable (CTG)n repeat. The mutation can be detected directly. Affected patients with cataracts may have minimal additional signs of the disorder, but all are at risk of life threatening complications. We have studied the efficacy of detecting new families with myotonic dystrophy by selectively screening cataract patients. S...
Myotonic dystrophy (MD) is rare disease that offers challenges to anesthesiologists. We report a case of adult patient with myotonic dystrophy who underwent laparoscopic cholecystectomy. A 48-year-old male patient, known case of MD, was presented for laparoscopic cholecystectomy. Physical examination revealed, young man, calm, quite, cooperative, not in pain or distress with frontal baldness, t...
BACKGROUND AND PURPOSE While the etiology and clinical features of "EMG disease" - which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular disease - are not well known, some authorities believe it may be a form of myotonia congenita (MC). The aims of this study were to determine the clinical features of EMG disease and ...
Among proteins involved in neurological disease ion channels are amenable to the most detailed characterisation: patch-clamp methods allow the opening and closing of individual channels to be documented at millisecond resolution in response to precisely delivered stimuli (whether electrical or pharmacological). In theory, therefore, inherited disorders of ion channels should be ideal candidates...
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