نتایج جستجو برای: metabolic myopathy
تعداد نتایج: 230155 فیلتر نتایج به سال:
A well-nourished alcoholic patient developed a subacute myopathy which responded rapidly to correction of severe hypomagnesaemia. The finding of profound hypocalcaemia prompted the measurement of serum magnesium. Magnesium deficiency should be looked for in any alcoholic patient with a myopathy as the prognosis seems better than in many other forms of alcoholic myopathy. Correction of the magne...
Two cases of ipecac myopathy, one with associated cardiomyopathy are reported. Both patients were young women with eating disorders who came to medical attention because of diffuse muscle weakness. Clinical and electromyographic data suggested ipecac myopathy and muscle biopsies confirmed this diagnosis. One patient had associated clinical and echocardiographic evidence of significant cardiomyo...
A patient with a past history of anorexia nervosa developed a hypokalaemic myopathy following a 'flu-like illness. Although she was apparently in remission from anorexia nervosa, the diet was found to be markedly abnormal with an excessive ingestion of liquorice and a low potassium salt intake. The clinical features and investigations, including muscle biopsy, are described. The patient is comp...
MFM (myofibrillar myopathies) are caused by mutations in several sarcomeric components, including the Z-disc protein myotilin. The morphological changes typical of MFM include Z-disc alterations and aggregation of dense filamentous sarcomeric material. The causes and mechanisms of protein aggregation in myotilinopathies and other forms of MFM remain unknown, although impaired degradation may ex...
INTRODUCTION Pompe's disease is a metabolic myopathy caused by a deficiency of the enzyme alpha-glucosidase. Patients with late-onset Pompe's disease have progressive muscle weakness, which also affects pulmonary function. Since the advent of specific treatment for Pompe's disease, enzyme replacement therapy with alpha-glucosidase, the prognosis of the disease has changed. METHODS We report t...
BACKGROUND Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on surviv...
The different techniques to measure and analyze surface EMG are summarized with an emphasis on the clinician's point of view. The application of surface EMG in neurological disease is hampered by many inherent problems, especially the difficulties in extracting features of single motor units. However, the evolution of surface EMG from single bipolar recordings via a linear array of multiple ele...
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