SMA Caused by Mutation in ASAH1 Gene Reported in Romania

SMA Caused by Mutation in ASAH1 Gene Reported in Romania

SMA News Today’s multimedia associate, Price Wooldridge, discusses a first-ever case in Romania of Spinal Muscular Atrophy (SMA) caused by a mutation in the ASAH1 gene. Plus, DeAnn Runge talks about a topic that’s keeping her up at night. She’s concerned she could lose 75% of her caregivers. She also shares about her next vlog regarding her views on SMA treatment effectiveness. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

Episoder(444)

Scholar Rock Shares Design of Phase 3 Trial Testing of Apitegromab & Staying Organized With SMA

Scholar Rock Shares Design of Phase 3 Trial Testing of Apitegromab & Staying Organized With SMA

SMA News Today’s multimedia associate, Price Wooldridge, discusses Scholar Rock's global apitegromab trial, likely to open next year, will test its muscle-directed therapy in type 2 and 3 patients age...

20 Jan 202212min

#98: How to Manage Caregivers, a Chat with SMA Contributors DeAnn Runge and Michael Morale

#98: How to Manage Caregivers, a Chat with SMA Contributors DeAnn Runge and Michael Morale

In episode 98, host Kevin Schaefer talks with fellow SMA News Today contributors about hiring and managing caregivers. Listen as Kevin talks with DeAnn Runge and Michael Morale about their experiences...

18 Jan 202258min

Spinraza May Restore Development of Motor Neurons & Why Finding Reliable SMA Carers Is Not Easy

Spinraza May Restore Development of Motor Neurons & Why Finding Reliable SMA Carers Is Not Easy

SMA News Today’s multimedia associate, Price Wooldridge, discuses how a study in symptomatic SMA children suggests Spinraza also works to return development to these nerve cells, especially if given e...

17 Jan 20227min

Son With SMA Inspires Character on ‘Ordinary Joe’ TV Show & How SMA Can Shape Creativity

Son With SMA Inspires Character on ‘Ordinary Joe’ TV Show & How SMA Can Shape Creativity

SMA News Today’s multimedia associate, Price Wooldridge reads an article about John Gluck, who has a type of muscular dystrophy, portrays versions of Joe's wheelchair-bound son with SMA on the NBC ser...

13 Jan 202211min

Evrysdi May Be Available in Early 2022 to Eligible UK Patients &Modifying a Wheelchair for SMA Needs

Evrysdi May Be Available in Early 2022 to Eligible UK Patients &Modifying a Wheelchair for SMA Needs

SMA News Today’s multimedia associate, Price Wooldridge, discusses how The National Institute for Health and Care Excellence has recommended that Evrysdi be provided at low or no cost to eligible SMA ...

10 Jan 202210min

Spinraza Improves Hand Dexterity in SMA Type 2 Children & Achieving Ambitions with SMA

Spinraza Improves Hand Dexterity in SMA Type 2 Children & Achieving Ambitions with SMA

SMA News Today’s multimedia associate, Price Wooldridge, discusses how Spinraza improved fine manual dexterity in both hands of five children with SMA type 2 over 1.5 years of treatment, a case series...

6 Jan 202210min

#97: Interview with Ali Ramos, a Social Worker and Disability and LGBTQ+ Activist.

#97: Interview with Ali Ramos, a Social Worker and Disability and LGBTQ+ Activist.

In episode 97, host Kevin Schaefer talks with Ali Ramos (she/her) from Amarillo, Texas. Ali is a licensed social worker and activist, focusing on both the disability and LGBTQ communities. She talks w...

4 Jan 202235min

Spinraza Delays Do Not Directly Affect Children in Italy & Making Goals with SMA

Spinraza Delays Do Not Directly Affect Children in Italy & Making Goals with SMA

SMA News Today’s multimedia associate, Price Wooldridge, reads a news article on how the delays in Spinraza treatment due to the COVID-19 pandemic did not directly result in worsening symptoms in chil...

3 Jan 202211min

Populært innen Helse

fastlegen
lydartikler-fra-aftenposten
rss-gukild-johaug
hvordan-har-du-det-mann
psykodrama
relasjonspodden-med-dora-thorhallsdottir-kjersti-idem
leger-om-livet
rss-garne-damer
foreldreradet
hjernesterk
rss-lopedrommen
hormonelle-frida
bak-fasaden-en-reise-i-livet-med-sykepleier-ine
morten-ramm-lar-kakla-ga-til-du-sovner
klimaks
rss-kull
g-punktet
helsetipspodden
rss-sunn-okonomi
sinnsyn