Physical therapy management of Pompe disease
نویسندگان
چکیده
منابع مشابه
Pompe disease gene therapy.
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder form with the onset of symptoms in adulthood....
متن کاملDiagnosis and management of Pompe disease.
Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severit...
متن کاملEnzyme replacement therapy (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملPompe disease
Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2006
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000217789.14470.c5