Survey: Counseling indeterminate SMA screening results is challenging
It can be difficult for genetic counselors in the U.S. and Canada to explain indeterminate results of prenatal screening for…
Articles by Margarida Maia, PhD
Baby boy with SMA reaches motor milestones with early Evrysdi use
Starting Evrysdi (risdiplam) very early — just 12 days after his birth and before his symptoms appeared — was…
Spinraza, Evrysdi preserve SMA type 2 upper limb motor function
Treatment with Spinraza (nusinersen) or Evrysdi (risdiplam) may help preserve upper limb motor function in children and young…
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…
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…
Mitochondria is a potential target for SMA treatment: Study
The parts of cells that produce energy, called mitochondria, in the skeletal muscles involved in voluntary movements don’t work properly…
Spinraza treatment restores lipid balance in CSF of SMA children
Spinraza (nusinersen) treatment may help restore balance to the levels of some lipids, fat-like molecules that are lower in…
Mouth opening unusually small in youngest SMA patients, study finds
Bulbar muscles, those of the face and throat, are affected in spinal muscular atrophy (SMA), and researchers in Germany…
Levodopa therapy could ease SMA symptoms, per new mouse study
Problems in how dopamine and other chemical messengers work in nerve cells can cause issues with posture in spinal…
Spinal cord gray matter may be imaging marker of SMA types 2, 3
Measuring the amount of gray matter in the spinal cord could help doctors track spinal muscular atrophy (SMA) over…