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…

Switching SMA treatments in UK based on practical needs: Study

Children living with spinal muscular atrophy (SMA) in the U.K. can switch treatments based on practical needs and preferences without experiencing unexpected disease progression, according to a study that drew on data from the SMA REACH UK database. “The availability of treatments in the United Kingdom has fundamentally…