Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations
| Autor: | B. A. Bulbulia, Nazeefah Laher, Raeesa Bulbulia |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty business.industry Muscle weakness Cardiorespiratory fitness Disease Enzyme replacement therapy Perioperative medicine.disease Hypotonia Disease Presentation Medicine Glycogen storage disease medicine.symptom business |
| Zdroj: | Journal of Rare Disorders: Diagnosis & Therapy. |
| ISSN: | 2380-7245 |
| DOI: | 10.21767/2380-7245.100189 |
| Popis: | Early onset Pompe disease is a rare disorder often diagnosed late. Hypotonia, muscle weakness and cardiorespiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising. |
| Databáze: | OpenAIRE |
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