Progress in enzyme replacement therapy in glycogen storage disease type II
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 adult-onset form. Cases with juvenile or adult...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2009-05-01
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| Series: | Therapeutic Advances in Neurological Disorders |
| Online Access: | https://doi.org/10.1177/1756285609103324 |
| _version_ | 1819202410418012160 |
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| author | Corrado Angelini Claudio Semplicini Paola Tonin Massimiliano Filosto Elena Pegoraro Gianni Sorarù Marina Fanin |
| author_facet | Corrado Angelini Claudio Semplicini Paola Tonin Massimiliano Filosto Elena Pegoraro Gianni Sorarù Marina Fanin |
| author_sort | Corrado Angelini |
| collection | DOAJ |
| description | 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 adult-onset 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. |
| first_indexed | 2024-12-23T04:03:35Z |
| format | Article |
| id | doaj.art-91b90fdb33374173bc3f4894990409ce |
| institution | Directory Open Access Journal |
| issn | 1756-2856 |
| language | English |
| last_indexed | 2024-12-23T04:03:35Z |
| publishDate | 2009-05-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Therapeutic Advances in Neurological Disorders |
| spelling | doaj.art-91b90fdb33374173bc3f4894990409ce2022-12-21T18:00:41ZengSAGE PublishingTherapeutic Advances in Neurological Disorders1756-28562009-05-01210.1177/1756285609103324Progress in enzyme replacement therapy in glycogen storage disease type IICorrado AngeliniClaudio SempliciniPaola ToninMassimiliano FilostoElena PegoraroGianni SorarùMarina FaninGlycogen 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 adult-onset 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.https://doi.org/10.1177/1756285609103324 |
| spellingShingle | Corrado Angelini Claudio Semplicini Paola Tonin Massimiliano Filosto Elena Pegoraro Gianni Sorarù Marina Fanin Progress in enzyme replacement therapy in glycogen storage disease type II Therapeutic Advances in Neurological Disorders |
| title | Progress in enzyme replacement therapy in glycogen storage disease type II |
| title_full | Progress in enzyme replacement therapy in glycogen storage disease type II |
| title_fullStr | Progress in enzyme replacement therapy in glycogen storage disease type II |
| title_full_unstemmed | Progress in enzyme replacement therapy in glycogen storage disease type II |
| title_short | Progress in enzyme replacement therapy in glycogen storage disease type II |
| title_sort | progress in enzyme replacement therapy in glycogen storage disease type ii |
| url | https://doi.org/10.1177/1756285609103324 |
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