نتایج جستجو برای: lysosomal myopathy
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Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit ra...
how to cite this article: alaei f. cardiac involvement in lysosomal diseases. iran j child neurol autumn 2012; 6:4 (suppl. 1): 19. pls see pdf.
Hypothyroidism's neurological manifestations are uncommon as first symptoms, and they usually appear later in the disease's course.Muscle hypertrophy is a very occurrence hypothyroid people 1. Hoffmann's syndrome kind of hypothyroidism thatmanifests muscle stiffness pseudohypertrophy adults. In most cases myopathy, laboratory tests reveal elevatedlevels enzyme. The electro physiological investi...
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...
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