Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme re...
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| Language: | English |
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Universidad Nacional de Colombia
2019-07-01
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| Series: | Case Reports |
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| Online Access: | https://revistas.unal.edu.co/index.php/care/article/view/76711 |
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| author | Thomas Torres-Cuenca Jorge Arturo Díaz-Ruíz Fernando Ortiz-Corredor |
| author_facet | Thomas Torres-Cuenca Jorge Arturo Díaz-Ruíz Fernando Ortiz-Corredor |
| author_sort | Thomas Torres-Cuenca |
| collection | DOAJ |
| description | Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme replacement therapy has shown to improve gross motor function and lung function in patients.
Case description: Female patient who presented chronic quadriparesis. She was diagnosed with Pompe disease, which required enzyme replacement therapy that helped improve the symptoms, which was evident with the performance of rapid functional evaluation tests.
Discussion: Enzyme replacement therapy in Pompe disease modifies the natural history of the disease. A brief review of the literature about the functional tests that can be used to assess a patient with this disorder is presented.
Conclusion: The 10-meter walk test, one-leg stance test, cervical flexion in supine position, five times sit to stand test, and coin rotation task are useful for clinical evaluation in patients with Pompe disease receiving enzyme replacement therapy.
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| format | Article |
| id | doaj-art-d9b31d9dcd244c8ca6ffe67916a24012 |
| institution | OA Journals |
| issn | 2462-8522 |
| language | English |
| publishDate | 2019-07-01 |
| publisher | Universidad Nacional de Colombia |
| record_format | Article |
| series | Case Reports |
| spelling | doaj-art-d9b31d9dcd244c8ca6ffe67916a240122025-08-20T02:05:27ZengUniversidad Nacional de ColombiaCase Reports2462-85222019-07-015210.15446/cr.v5n2.7671151754Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case reportThomas Torres-Cuenca0https://orcid.org/0000-0003-3140-9098Jorge Arturo Díaz-Ruíz1https://orcid.org/0000-0001-7614-0809Fernando Ortiz-Corredor2https://orcid.org/0000-0002-7427-3576Universidad Nacional de Colombia - Sede Bogotá - Faculty of Medicine - Department of Physical Medicine and RehabilitationUniversidad Nacional de Colombia - Sede Bogotá - Faculty of Medicine - Department of Physical Medicine and Rehabilitation - Bogotá D.C. - Colombia. | Centro de Investigación en Fisiatría y Electro Diagnóstico (CIFEL) - Research DepartmentCentro de Investigación en Fisiatría y Electro Diagnóstico (CIFEL) – Research Department - Bogotá D.C. - Colombia. | Instituto Roosevelt - Physical Medicine and Rehabilitation ServiceIntroduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme replacement therapy has shown to improve gross motor function and lung function in patients. Case description: Female patient who presented chronic quadriparesis. She was diagnosed with Pompe disease, which required enzyme replacement therapy that helped improve the symptoms, which was evident with the performance of rapid functional evaluation tests. Discussion: Enzyme replacement therapy in Pompe disease modifies the natural history of the disease. A brief review of the literature about the functional tests that can be used to assess a patient with this disorder is presented. Conclusion: The 10-meter walk test, one-leg stance test, cervical flexion in supine position, five times sit to stand test, and coin rotation task are useful for clinical evaluation in patients with Pompe disease receiving enzyme replacement therapy. https://revistas.unal.edu.co/index.php/care/article/view/76711Glycogen Storage Disease Type IIEnzyme Replacement TherapyRecovery of FunctionGlycogen Storage Disease Type IIBMinimal Clinically Important DifferenceMuscle Disorders. |
| spellingShingle | Thomas Torres-Cuenca Jorge Arturo Díaz-Ruíz Fernando Ortiz-Corredor Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report Case Reports Glycogen Storage Disease Type II Enzyme Replacement Therapy Recovery of Function Glycogen Storage Disease Type IIB Minimal Clinically Important Difference Muscle Disorders. |
| title | Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report |
| title_full | Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report |
| title_fullStr | Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report |
| title_full_unstemmed | Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report |
| title_short | Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report |
| title_sort | functional assessment using short tests in a patient with pompe disease receiving enzyme replacement therapy case report |
| topic | Glycogen Storage Disease Type II Enzyme Replacement Therapy Recovery of Function Glycogen Storage Disease Type IIB Minimal Clinically Important Difference Muscle Disorders. |
| url | https://revistas.unal.edu.co/index.php/care/article/view/76711 |
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