A plant used in traditional Chinese medicine boosts the production of functional survival motor neuron (SMN) protein — whose lack underlies the development of spinal muscular atrophy (SMA) — and ameliorates disease symptoms, a study in a mouse model finds. The results, “Improvement of Spinal Muscular Atrophy via Correction…
Electrotherapy combined with physical exercise may be used to improve motor function in people with spinal muscular atrophy (SMA) type 3, according to a case report. The study, “Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III,” was published in…
Although damage to motor neurons characterizes spinal muscular atrophy, problems with lipid (fat) metabolism are an important feature of SMA that should be addressed to minimize the risk of heart and liver disease related to high levels of fatty molecules in people with the disorder, a study found. Complications due to poor …
Severe brain abnormalities are evident in children born spinal muscular atrophy type 0, also known as prenatal onset SMA, who survive into early childhood, according to a recent case report. The study, “Severe brain involvement in 5q spinal muscular atrophy type 0,” was published in the Annals of…
Clinicians have described the case of an Iranian teenager with a rare type of spinal muscular atrophy (SMA) associated with progressive myoclonic epilepsy (PME). The case report study, “A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran,” was published in the…
A small RNA molecule called miR-23a can prevent neuron degeneration and muscle wasting by acting as a protective modifier in cellular and animal models of spinal muscular atrophy (SMA), a study says. The study, “AAV9-Mediated Delivery of miR-23a Reduces Disease Severity in Smn2B-/SMA Model Mice,” was published in…
Long-term treatment with Biogen‘s Spinraza (nusinersen) showed clinically meaningful improvement in the motor function of children ages 2 to 15 with late-onset spinal muscular atrophy (SMA), trial data shows. Spinraza restored motor function and stabilized disease activity over long periods of time in children with type…
A global dysregulation affecting multiple signaling cascades operating inside motor neurons may be the underlying cause of spinal and bulbar muscular atrophy (SBMA), results of a mouse study reveal. The findings of the study, “Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of…
Zolgensma (AVXS-101), an investigational gene therapy for patients with spinal muscular atrophy (SMA), improves motor function and prolongs survival in infants with SMA type 1 under six months of age, Phase 3 trial interim data show. These findings from the ongoing, multicenter and open-label Phase 3 STR1VE trial (…
Valproic acid, or valproate, is a relatively safe drug that improves gross motor function in patients with spinal muscular atrophy (SMA), but fails to improve the functionality of specific muscles, including those involved in breathing, a review finds. The study, “Efficacy and Safety of Valproic Acid for…
