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Source: Revista de Neurologia

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Total 67 results found since Jan 2013.

Arrhythmias in patients with X-linked myotubular myopathy
We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support.DISCUSSION: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.PMID:37466134 | DOI:10.33588/rn.7703.2022222
Source: Revista de Neurologia - July 19, 2023 Category: Neurology Authors: M Pons-Espinal J Clotet-Caba S Cesar-D íaz D Yubero-Siles Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

Progressive proximal muscle weakness with subacute onset in an elderly patient: a case report
CONCLUSION: In this case, exclusion of inflammatory myopathies, metabolic muscle disorders and other neurological diseases is necessary for establishing a reliable diagnosis. In SINAM, simply discontinuing statin is often insufficient and aggressive immunosuppression or immunomodulation therapy is needed to achieve disease remission. This case aims to demonstrate that statins can induce serious muscular diseases that require aggressive immunosuppression.PMID:36544374 | DOI:10.33588/rn.7601.2021276
Source: Revista de Neurologia - December 22, 2022 Category: Neurology Authors: A Martins G Nadais M Pinto R Taipa L Costa S Pimenta Source Type: research