AI Summary
X-linked myotubular myopathy is a rare congenital myopathy caused by pathogenic variants in the MTM1 gene, leading to severe muscle weakness and respiratory problems in affected boys. Without intervention, a significant percentage of these children do not survive beyond 18 months of age.
X-linked myotubular myopathy is a rare congenital myopathy caused by pathogenic variants in the MTM1 gene. The disease is severe in 80% of affected boys, with profound skeletal muscle weakness, respiratory weakness, and dysphagia at birth.1 Without intervention, more than 50% of these children will die within the first 18 months of life, and those who survive will often require assisted ventilation.2