Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
| Autor: | M. Annoussamy, Laurent Servais, Dirk Schmitt, Ulrike Schara-Schmidt, Andreas Roos, Frederik Braun, Andrea Gangfuss |
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| Rok vydání: | 2021 |
| Předmět: |
Research Report
Adult Male Pediatrics medicine.medical_specialty Neuromuscular disease motor milestones Adolescent breathing support medicine.medical_treatment Medizin Disease centronuclear myopathy Young Adult Germany Percutaneous endoscopic gastrostomy congenital myopathy Outcome Assessment Health Care AAV-8 Humans Medicine Longitudinal Studies Child business.industry Genetic heterogeneity X-linked myotubular myopathy medicine.disease gene therapy Congenital myopathy myotubularin Neurology Child Preschool Cohort Neurology (clinical) business Natural history study Follow-Up Studies Myopathies Structural Congenital |
| Zdroj: | Journal of Neuromuscular Diseases |
| ISSN: | 2214-3602 2214-3599 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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