News

HapSMA test can help ID genetic changes affecting SMA: Study

Testing patient DNA with advanced methods like HapSMA — which can “[analyze] … SMN and its surrounding genes” — can reveal otherwise undetectable genetic changes, such as gene conversion, that affect how severe spinal muscular atrophy (SMA) is, according to a study by researchers in the Netherlands. These novel…

DMTs boost fine motor skills in young SMA patients able to sit

A year of disease-modifying therapies (DMTs) improved motor function, particularly fine motor skills, in people with spinal muscular atrophy (SMA) who could sit, but not walk due to disease progression before they had access to treatment, a study reports. These functional improvements were independent of treatment-related gains in…

Amino acid balance could play role in SMA, study finds

The balance of amino acids capable of influencing neurological function is disrupted in patients with spinal muscular atrophy (SMA) and in mouse models, a study found. Observed changes in patients were partially normalized after treatment with the disease-modifying therapy Spinraza (nusinersen). Treatment with one of the amino acids,…

MDA 2025: Spinraza treatment stabilizes adult motor function

Treatment with Spinraza (nusinersen) can help stabilize motor function in adults with spinal muscular atrophy (SMA), according to a new analysis. “This study aligns with previously reported findings and suggests that long-term [treatment with Spinraza] offers sustained clinical benefits in adults with SMA,” researchers wrote in the abstract…