دورية أكاديمية
Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective
| العنوان: | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
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| المؤلفون: | Koc, Ayse Filiz, Özdamar, Sevim Erdem, Tekce, Hacer Durmus, Kotan, Dilcan, Ekmekci, Ahmet Hakan, Şengün, İhsan Şükrü, Yuceyar, Ayşe Nur |
| بيانات النشر: | Frontiers Media Sa |
| سنة النشر: | 2023 |
| المجموعة: | Ege University Institutional Repository |
| مصطلحات موضوعية: | diagnostic delay, late-onset Pompe disease, diagnostic algorithm, index of suspicion, treatment, outcome, Enzyme Replacement Therapy, Natural Course, Consensus, Phenotype |
| الوصف: | This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the di erential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns. ; This expert panel study was supported by Sanofi Turkey which played a role in the organization of expert panel meetings including the invitation of participants and compensation for the time of the experts. Sanofi Turkey had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. ; Sanofi Turkey |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1664-2295 |
| العلاقة: | Frontiers in Neurology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90916Test; https://doi.org/10.3389/fneur.2023.1095134Test; 14 |
| DOI: | 10.3389/fneur.2023.1095134 |
| الإتاحة: | https://doi.org/10.3389/fneur.2023.1095134Test https://hdl.handle.net/11454/90916Test |
| حقوق: | open |
| رقم الانضمام: | edsbas.15107C13 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16642295 |
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| DOI: | 10.3389/fneur.2023.1095134 |