A Case Study on Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations
| Autor: | Nazeefah Laher, Raeesa Bulbulia, B. A. Bulbulia |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Infant and adult forms
Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Glycogen storage disease business.industry Genetic enhancement Cardiorespiratory fitness Enzyme replacement therapy Disease Perioperative medicine.disease Hypotonia neuromuscular disorder (GAA) enzyme deficiency future prospects Disease Presentation Medicine medicine.symptom business multidisciplinary team management |
| DOI: | 10.5281/zenodo.5159335 |
| Popis: | Early onset Pomp disease is a rare disorder often diagnosed late. Hypotonia, muscle weakens and cardio respiratory 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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