"Spinal muscular atrophy (SMA) is a rare genetic disorder that affects motor neurons - nerve cells in the spinal cord responsible for controlling voluntary muscle movement. Caused by mutations in the SMN1 gene, SMA leads to progressive muscle wasting and weakness, and can severely impact mobility, breathing and swallowing. SMA is one of the most common genetic conditions affecting children, with an estimated 1 in every 6,000 to 10,000 babies born worldwide with the condition."
""Gene replacement therapy has been very effective for SMA. But this and other motor neuron targeted therapies are not cures. There's been a real flurry of activity trying to figure out ways of getting the treatment started earlier so that there are fewer motor neurons lost. Inclusion of SMA in the Newborn Screening in the US has been a great improvement," Kuntz said. "However, SMA patients, particularly those beginning treatment when symptomatic, have weakness as compared to peers and over time can experience some loss of function.""
A clinical trial showed encouraging results for a muscle-targeting therapy aimed at improving motor function in children and adolescents with spinal muscular atrophy. Spinal muscular atrophy is a genetic disorder caused by SMN1 mutations that leads to progressive motor neuron loss, muscle wasting, weakness, and impairments in mobility, breathing, and swallowing. The condition affects roughly 1 in 6,000 to 10,000 newborns worldwide. Current treatments slow progression and improve motor milestones but do not fully restore muscle strength. Even small motor gains can substantially improve quality of life. The multicenter trial enrolled 188 nonambulatory patients aged 2 to 21 already receiving standard care and tested apitegromab, a drug designed to inhibit myostatin activation.
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