Abstract
X-linked myotubular myopathy (XLMTM) is a rare congenital neuromuscular disorder affecting boys at a rate of 1 in 50,000 live births. The majority (∼80%) of the affected children are born with serious and diffuse skeletal muscle weakness and hypotonia that necessitate immediate and sustained extensive care including tracheostomy and feeding by gastric intubation. Considerable proportions (∼25%) of the cases succumb to death within their first year of life and the majority do so later due mainly to respiratory failure.
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