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Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to m...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902950/ https://www.ncbi.nlm.nih.gov/pubmed/33164942 http://dx.doi.org/10.3233/JND-200539 |
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author | Gangfuss, Andrea Schmitt, Dirk Roos, Andreas Braun, Frederik Annoussamy, Melanie Servais, Laurent Schara-Schmidt, Ulrike |
author_facet | Gangfuss, Andrea Schmitt, Dirk Roos, Andreas Braun, Frederik Annoussamy, Melanie Servais, Laurent Schara-Schmidt, Ulrike |
author_sort | Gangfuss, Andrea |
collection | PubMed |
description | X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM. At present, there is no curative therapy available, despite first promising results from ongoing gene therapy studies. In this study, we evaluated in detail the data from 13 German XLMTM patients, which was collected over a period of up to 20 years in our university hospital. We compared it to the international prospective longitudinal natural history study (NHS) data from 45 patients (containing 11 German patients). To highlight the broad phenotypic spectrum of the disease, we additionally focused on the clinical presentation of three cases at a glance. Comparing our data with the above mentioned natural history study, it appears the patients of the present German cohort seem to be more often severely affected, with higher frequency of non-ambulatory patients and patients on ventilation (and for longer time) and a higher proportion of patients needing a percutaneous endoscopic gastrostomy. Another key finding is a potential gap in time between first clinical presentation and final diagnosis, showing a need for patients to be treated in a specialized center for neuromuscular diseases. |
format | Online Article Text |
id | pubmed-7902950 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-79029502021-03-09 Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience Gangfuss, Andrea Schmitt, Dirk Roos, Andreas Braun, Frederik Annoussamy, Melanie Servais, Laurent Schara-Schmidt, Ulrike J Neuromuscul Dis Research Report X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to mouth and depend on a respirator 24 hours a day every day. This suggests that ventilator requirements may not illustrate the full clinical picture of patients with XLMTM. At present, there is no curative therapy available, despite first promising results from ongoing gene therapy studies. In this study, we evaluated in detail the data from 13 German XLMTM patients, which was collected over a period of up to 20 years in our university hospital. We compared it to the international prospective longitudinal natural history study (NHS) data from 45 patients (containing 11 German patients). To highlight the broad phenotypic spectrum of the disease, we additionally focused on the clinical presentation of three cases at a glance. Comparing our data with the above mentioned natural history study, it appears the patients of the present German cohort seem to be more often severely affected, with higher frequency of non-ambulatory patients and patients on ventilation (and for longer time) and a higher proportion of patients needing a percutaneous endoscopic gastrostomy. Another key finding is a potential gap in time between first clinical presentation and final diagnosis, showing a need for patients to be treated in a specialized center for neuromuscular diseases. IOS Press 2021-01-01 /pmc/articles/PMC7902950/ /pubmed/33164942 http://dx.doi.org/10.3233/JND-200539 Text en © 2021 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Report Gangfuss, Andrea Schmitt, Dirk Roos, Andreas Braun, Frederik Annoussamy, Melanie Servais, Laurent Schara-Schmidt, Ulrike Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title | Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title_full | Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title_fullStr | Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title_full_unstemmed | Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title_short | Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience |
title_sort | diagnosing x-linked myotubular myopathy – a german 20-year follow up experience |
topic | Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902950/ https://www.ncbi.nlm.nih.gov/pubmed/33164942 http://dx.doi.org/10.3233/JND-200539 |
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