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Welcome. Myotubular Myopathy is a rare muscle condition which affects mostly boys at birth, and sometimes an even rarer form develops later in life affecting both boys and girls. It causes profound muscle weakness.
Congenital myopathy. Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. As a whole, congenital myopathies can be broadly classified as follows: A distinctive abnormality in skeletal muscle fibres on the cellular level; observable via light microscope; Symptoms of muscle weakness and hypotonia; Is a congenital disorder, meaning it occurs during development and symptoms present themselves at birth or in early life.