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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