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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...

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Autores principales: Gangfuss, Andrea, Schmitt, Dirk, Roos, Andreas, Braun, Frederik, Annoussamy, Melanie, Servais, Laurent, Schara-Schmidt, Ulrike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
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.
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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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