Document Detail

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II.
MedLine Citation:
PMID:  21179524     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an adultonset form. Cases with juvenile or adult onset GSDII mimic limb-girdle muscular dystrophy or polymyositis and are often characterized by respiratory involvement. GSDII patients are diagnosed by biochemical assay and by molecular characterization of the GAA gene. Ascertaining a natural history of patients with heterogeneous late-onset GSDII is useful for evaluating their progressive functional disability. A significant decline is observed over the years in skeletal and respiratory muscle function. Enzyme replacement therapy (ERT) has provided encouraging results in the infantile form. It is not yet known if ERT is effective in late-onset GSDII. We examined a series of 11 patients before and after ERT evaluating muscle strength by MRC, timed and graded functional tests, 6-minute walk test (6MWT), respiratory function by spirometric parameters and quality of life. We observed a partial improvement during a prolonged follow-up from 3 to 18 months. The use of different clinical parameters in the proposed protocol seems crucial to determine the efficacy of ERT, since not all late-onset patients respond similarly to ERT.
Corrado Angelini; Claudio Semplicini; Paola Tonin; Massimiliano Filosto; Elena Pegoraro; Gianni Sorarù; Marina Fanin
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Therapeutic advances in neurological disorders     Volume:  2     ISSN:  1756-2864     ISO Abbreviation:  Ther Adv Neurol Disord     Publication Date:  2009 May 
Date Detail:
Created Date:  2010-12-23     Completed Date:  2011-07-14     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101480242     Medline TA:  Ther Adv Neurol Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  143-53     Citation Subset:  -    
Department of Neurosciences. University of Padova. Padova. Italy
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