The genetic crystal ball: new answers and new questions for infants with neuromuscular disorders and respiratory failure

A male infant is born at term in unexpectedly poor condition. He needs immediate resuscitation including respiratory support and is admitted to the neonatal intensive care unit. The infant is treated initially for suspected hypoxic-ischaemic encephalopathy, but he remains ventilator dependent. Over the coming weeks, it becomes apparent that he may have an underlying neuromuscular disorder. The medical team orders various investigations, including genetic testing. Subsequently, the results indicate that he has X linked myotubular myopathy (XLMTM), a rare, severe, life-limiting congenital myopathy. In the ensuing weeks, the infant’s parents have long discussions with the clinical team caring for him. What does the future hold for him? For how long might he live? Will he be able to breathe without respiratory support? Would it be in his best interests to have a tracheostomy and continued mechanical ventilation? Or would it be best to withdraw his current respiratory support and allow...

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