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…
Control Bionics has announced the launch of the GridPad Trilogy, an augmentative and alternative communication (AAC) device intended to aid people living with a range of conditions that affect movement and speech, such as spinal muscular atrophy…
In cell- and mouse-based models of spinal muscular atrophy (SMA), reduced levels of the SMN protein — a hallmark of the disease — altered both the calpain enzyme system and autophagy, two major regulatory pathways of the cell, a study has discovered. …
Spinraza significantly eased fatigue in adults with spinal muscular atrophy (SMA) after six months of treatment, as measured by the patient-reported Fatigue Severity Scale (FSS), a small study found. But this relief was no longer statistically significant after 10 months, its…
Continuing treatment for spinal muscular atrophy (SMA) is essential and should not be considered elective, or be delayed or interrupted if possible, despite the healthcare limitations imposed by the COVID-19 pandemic.  These are the main recommendations given unanimously by a panel…
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