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One of my patients, Michael, who has spinal muscular atrophy, has continued to experience increased pain and pressure along his coccyx and into his right hip while sitting in his wheelchair all day. He is unable to move his lower extremities independently and is reliant on sitting in…
Nearly 4 of every 5 infants with spinal muscular atrophy (SMA) type 1 born in Italy during the era of disease-modifying therapies (DMTs) are still alive, illustrating that such treatment has “radically changed the…
An algorithm that takes into account clinical measures of motor symptom severity alongside data on factors like age and height may help predict the risk of scoliosis in people with spinal muscular atrophy (SMA) who have received…
SMA Europe is launching an initiative to share personal stories of how treatment affects the lives of people with spinal muscular atrophy (SMA). The initiative comes as part of OdySMA, an SMA…
Swallowing function may have improved in spinal muscular atrophy (SMA) patients since disease-modifying therapies (DMT) have become available, a review study suggests. The analysis showed problems with swallowing were prevalent in the years before…
Gratitude and support from family and healthcare staff can help people with spinal muscular atrophy (SMA) feel more positive, stay motivated, and plan their lives better, a study found. Programs that focus on gratitude could help patients…
Evrysdi (risdiplam) effectively improved motor function in adults with spinal muscular atrophy (SMA) type 2 or type 3, particularly skills like hand strength and function, a small study in France shows. Most patients…
Treatment with the approved gene therapy Zolgensma was found to ease breathing difficulties in children with spinal muscle atrophy (SMA), reducing hospitalizations due to respiratory issues by than 25%, according to a real-world study in Israel.
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…
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…
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