4.1 Article

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience

期刊

JOURNAL OF NEUROMUSCULAR DISEASES
卷 8, 期 1, 页码 79-90

出版社

IOS PRESS
DOI: 10.3233/JND-200539

关键词

X-linked myotubular myopathy; centronuclear myopathy; congenital myopathy; myotubularin; motor milestones; breathing support; AAV-8; gene therapy

向作者/读者索取更多资源

X-linked myotubular myopathy (XLMTM) is a rare life-threatening neuromuscular disease caused by pathogenic variants in the MTM1 gene, with a wide phenotypic spectrum and no available curative therapy. German XLMTM patients appear to be more severely affected, with potential delays in diagnosis indicating a need for specialized treatment centers.
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.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.1
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据