From February 12, all newborn babies will be offered screening for spinal muscular atrophy (SMA), a rare progressive neuromuscular disease. SMA will be one of more than 20 other rare disorders ...

The parents of two-year-old Aakriti Singh diagnosed with Spinal Muscular Atrophy – SMA type-1, are worried about her next dose of medicine. They were confident of getting central government financial ...

Some of these families' decisions may elicit criticism from the general public, but choices regarding medical care and familial genetics can ... moderate phenotype (type II SMA) typically need ...

The most efficient one is called SMN 1 – that’s what’s missing ... and physical exam screenings, genetic testing to help determine the type of SMA, carrier testing from family members ...

“There is nothing I can say to make it any better.” Aviana has spinal muscular atrophy type 1 (SMA1). Most babies with the rare genetic condition die before their first birthdays. The average ...

More research is needed to confirm gray matter, the darker tissue found in the brain and spinal cord, “as a potential disease ...

Zolgensma can be used in patients with inherited mutations affecting genes known as SMN1, who have either been diagnosed with SMA type 1 - the most severe type - or have up to 3 copies of ...

Intrathecal onasemnogene abeparvovec improved HFMSE scores in patients with SMA type 2, indicating enhanced ... meaningful increase in HFMSE scores in 1 year. “Many patients with SMA currently ...