Parents of children with spinal muscular atrophy (SMA) reported different perspectives and concerns about Spinraza (nusinersen) therapy in an interview-based study, done to further understand the decision-making process involved in choosing whether to try the new treatment. The findings showed that, while many parents were focused…
Young adults with spinal muscular atrophy (SMA) exhibited thigh muscle decline despite stable strength and motor function over one year, a pilot study using quantitative MRI imaging demonstrated. The scientists said this non-invasive muscle imaging technique shows its potential as a…
Among children with neuromuscular disorders, those with spinal muscular atrophy type 1 (SMA 1) appear to be more vulnerable to more severe COVID-19 symptoms, a small study suggests. However, the course of disease in children with neuromuscular disorders overall may not be as…
Non-professional caregivers who care for children with spinal muscular atrophy (SMA) carry a high daily burden that negatively affects certain aspects of their lives, according to a questionnaire study conducted in Europe. Additionally, more severe disease was correlated with more time…
Direct medical costs associated with spinal muscular atrophy (SMA) are more than 50 times higher than those of matched control patients without SMA, according to a healthcare claims analysis. The primary driver of cost for infantile SMA cases was inpatient expenses,…
Researchers have found changes in the electrical activity between the brain and muscles in adults who had childhood polio — an infection that affects the same motor neurons as those impacted in people with spinal muscular atrophy (SMA), a…
Genetic analysis of 28 families with a member affected by spinal muscular atrophy (SMA) identified novel mutations in the SMN1 gene and different genes widely prevalent in SMA patients not found in unaffected family members, a study reveals. …
An analysis of prenatal mice embryos carrying genetic mutations that cause severe cases of spinal muscular atrophy (SMA) found overall developmental growth delays and changes in protein production in all organs assessed before birth, a study reported. The findings support the…
Gene therapy that increased the production of a protein called DOK7 in a spinal muscular atrophy (SMA) mouse model was found to improve the neuromuscular junction structure, reduce muscle fiber loss, improve grip strength, and extend survival. These study findings suggest that DOK7…
Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial. Findings from the trial…
