Parents cherish developmental milestones, from a newborn’s grip of an offered finger; to an infant’s holding her head up the first time; to rolling over, creeping, and crawling; then to standing, cruising, and finally walking. Even kicking during a diaper change or yowling requires muscle strength and coordination. But a boy with X-linked myotubular myopathy (MTM) is so weak that even breathing is a huge struggle. If a baby survives the initial hospital stay, care at home becomes a full-time job and is only supportive, delaying the inevitable. That grim picture may be changing. Thanks to the efforts of parents, geneticists, physicians, and veterinarians, a gene therapy for MTM has had early encouraging results as a few treated boys are maxing out on standard tests of neuromuscular function (CHOP INTEND) and breathing (maximal inspiratory pressure or MIP). One boy who’d only received nutrition through a stomach tube is now feeding himself; another can pick up and throw a ball. The story
Source: Gene Therapy for Myotubular Myopathy: Early Signs of Success! | DNA Science Blog