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Infantile onset Pompe disease is a rare and fatal neuromuscular disease also known as glycogen storage disease type II (GSD-II) and acid maltase deficiency (AMD). It is caused by a deficiency or dysfunction of the lysosomal enzyme, acid a-glucosidase (GAA), resulting in the accumulation of glyco-gen in several tissues, especially in skeletal and heart muscle. Patients with Pompe disease present with a wide spectrum of symptoms, ranging from a rapidly fatal infantile disease to a more slowly progressing, lateonset form. The infantile form of Pompe disease is the most severe end of the phenotypic spectrum, and it is characterized by marked and progressive hypotonia and muscle weakness in the first months of life, accompanied by progressive hypertrophic cardiomyopathy. A significant number of patients die before the age of 1 year as a result of cardiorespiratory insufficiency. Published reports on limited numbers of patients indicate that the mean age at death is less than nine months.

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2005-02-18   |   904 visitas   |   Evalua este artículo 0 valoraciones

Vol. 19 Núm.3. Julio-Septiembre 2003 Pags. 94-95 Acta Neurol Colomb 2003; 19(3)