Symptoms of nutritional rickets seen to mimic SMA type 3 in boy
In an African American toddler, neuromuscular symptoms of a severe form of nutritional rickets — a condition characterized by weak…
Articles by Margarida Maia, PhD
Evrysdi for SMA now approved in Europe for use in all ages
The European Commission (EC) has extended its approval of Evrysdi (risdiplam) to treat babies with spinal muscular atrophy (SMA) who…
Spinraza has few side effects in SMA children, teens: Meta-analysis
Spinraza (nusinersen) carries relatively few side effects and nearly halves the odds of children and adolescents with spinal…
GenQA seeks blood donations to check quality of newborn screening
GenQA is asking people with spinal muscular atrophy (SMA) and their families in the U.K. to donate a…
New DYNC1H1 mutation a likely cause of SMA-LED in Chinese family
A young boy and three of his relatives were found to carry a new mutation that was the likely cause…
Biohaven’s taldefgrobep alfa on FDA’s fast track
The U.S. Food and Drug Administration (FDA) has given fast track designation to Biohaven Pharmaceuticals‘ experimental medicine taldefgrobep alfa…
Fear, sadness, distress affect SMA children more greatly, study says
Young children with spinal muscular atrophy (SMA) feel more fearful and sad, and may have a harder time recovering…
Long-term Efficacy of Treatments Monitored in Japanese Study
Researchers in Japan are conducting a study to better understand the natural history of spinal muscular atrophy (SMA) and…
Switch to Zolgensma From Evrysdi Found Safe, Effective for Baby Girl
The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was safe and effective in a baby girl with spinal muscular…
IVF, Embryo Screening Help SMA Carriers Have Healthy Baby
A combination of in vitro fertilization and preimplantation genetic testing helped a couple in Indonesia — both carriers of mutations causing spinal…