Researchers reported a unique mutation that supported an 8-year-old girl’s diagnosis of spinal muscle atrophy with lower extremity predominance (SMA-LED). The mutation, mapped to the BICD2 gene, resulted in a severe form of SMA-LED, type 2B, that emerged before birth and was primarily marked by joint contractures in infancy.
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The activity of many genes may be dysregulated in spinal muscular atrophy (SMA), but the way the disease affects genes seems to vary across different types of tissues in the body, a study found. “Our comparative meta-analysis identified only few genes and pathways that were consistently dysregulated in SMA…
Young children with severe spinal muscular atrophy (SMA) have substantial loss of motor neurons in the thoracic region of the spinal cord, the area between the neck and the bottom of the ribs, a study found. The study provides a detailed look at SMA pathology in the spinal cord,…
It’s somehow already time for Thanksgiving, the designated day for us to give thanks for our blessings. Ideally, we should designate a few more days each year to doing that — like, say, the other 364 — but one day a year is better than none. I try to give…
Taldefgrobep alfa did not significantly improve motor function across the total population of treated spinal muscular atrophy (SMA) patients in a pivotal Phase 3 clinical trial, but significant improvements were seen among Caucasian participants. That’s according to trial results announced by the therapy’s developer, Biohaven Pharmaceuticals. The…
Gene therapy that selectively delivers the SMN1 gene to the liver reduced alterations related to spinal muscular atrophy (SMA) in a mouse model, restoring muscle size and correcting pancreatic issues. Mice that received liver-specific SMN1 also lived longer, performed better on motor tasks, and had fewer liver problems than untreated…
Living with spinal muscular atrophy (SMA) often means facing many hardships and uncertainties. With physical limitations, emotional hurdles, and complex medical issues, SMA is constantly shaping and shifting my life. Though these are the realities I’ve lived with and grown accustomed to for 34 years, there are still some…
Individually and collectively, it’s vital to be sensitive to what’s happening in the world around us. This awareness allows us to be empathetic and strive for change that improves society for ourselves and others. The SMA and disability communities have long battled inequality and discrimination that could…
At Cure SMA’s 13th annual Hope on the Hill event in Washington, D.C., spinal muscular atrophy (SMA) patients, their families, lawmakers, and other advocates gathered to celebrate recent progress in disease research and legislative priorities for the SMA community. Among the speakers at the event were several members…
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