The SMA Newborn Screening Alliance has just launched a new version of the White Paper on newborn screening for spinal muscular atrophy. The White Paper was presented at the latest SMAcademy webinar and you can now consult it here.
Neonatal screening is currently available in the following thirteen Italian regions:
Abbruzzo, Campania, Emilia-Romagna, Friuli - Venezia Giulia, Lazio, Lombardy, Liguria, Puglia, Piedmont e Valle d'Aosta, Tuscany, Trentino - South Tyrol, Veneto, Sicily.
Now three further regions are in the process of adding SMA to pathologies under screening: Basilicata, Marche and Sardinia.
For further information please see the following article.
Share4Rare has reviewed this article highlighting the work of six patient organisations including SMA Europe.
The important role of newborn screening is emphasized when it comes to enhancing the quality of life of people living with rare diseases and their families. Patient organisations like SMA Europe are vital to make these tests available in more and more countries in collaboration with health care professionals, governments and the society.
For more information, please click here:
https://www.share4rare.org/news/role-patient-organisations-newborn-screening-rare-diseases
Muscular Dystrophy Canada announced that after three years of working with each Canadian province and territory, all babies born in Canada can now be tested for spinal muscular atrophy (SMA). This milestone means infants diagnosed with SMA, the most fatal genetic disorder in children under two years of age, can receive life-changing treatment before symptoms even develop. It also marks the first neuromuscular condition to be added to the national screening panels across the country.
For more information, please click here: