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/

Jaksot(444)

Using Ultrasound May Help in SBMA Diagnosis & Dealing With Hospital Stays

Using Ultrasound May Help in SBMA Diagnosis & Dealing With Hospital Stays

SMA News Today’s multimedia associate, Price Wooldridge, discusses how men with spinal and bulbar muscular atrophy (SBMA) had abnormally small nerves in the limbs, especially the arms, as measured by ...

2 Maalis 20228min

#101: Interview with John Milligan, Asuragen Scientist & SMA Testing Expert

#101: Interview with John Milligan, Asuragen Scientist & SMA Testing Expert

In this episode, host Kevin Schaefer talks with John Milligan from Austin, Texas. John is a Senior Manager in RND at Asuragen, a biotechnology company. They chat about the state of SMA testing, newbor...

1 Maalis 202228min

SMA Screening Now Available to 87% of Newborns in US & Olympics Lacked Disability Representation

SMA Screening Now Available to 87% of Newborns in US & Olympics Lacked Disability Representation

SMA News Today’s multimedia associate, Price Wooldridge, discusses how screening for spinal muscular atrophy is now available to 87% of all newborns in the United States, according to Cure SMA. After...

23 Helmi 20227min

Evrysdi for Infants Under 2 Months Old Given FDA Priority Review & Adapting to a New Wheelchair

Evrysdi for Infants Under 2 Months Old Given FDA Priority Review & Adapting to a New Wheelchair

SMA News Today’s multimedia associate, Price Wooldridge, discusses how the FDA is reviewing a request that the use of Evrysdi, an oral and at-home SMA treatment, be extended to pre-symptomatic babies....

16 Helmi 202210min

#100: Interview with Gabrielle Runyon, College Student with SMA and Disability Advocate

#100: Interview with Gabrielle Runyon, College Student with SMA and Disability Advocate

In episode 100, host Kevin Schaefer talks with Gabrielle Runyon (she/her) from Louisville, Kentucky. Gabrielle is a sophomore at the University of Louisville, studying psychology. She talks about grow...

15 Helmi 202238min

#99: SMA and Motherhood

#99: SMA and Motherhood

In episode 99, host Kevin Schaefer talks with two mothers from the SMA community. Trudy Citovic lives in Oregon, and her daughter Alina has SMA. As an advocate for newborn screenings, she talks abou...

1 Helmi 20221h 2min

Spine Surgery Effective in SMA Type 1 Children & Mentally Preparing For Surgery

Spine Surgery Effective in SMA Type 1 Children & Mentally Preparing For Surgery

SMA News Today’s multimedia associate, Price Wooldridge, discusses how surgery to correct kyphoscoliosis — an abnormal curvature of the spine found in children with SMA type 1 — also allows Spinraza t...

27 Tammi 202211min

Wheelchair Hockey Linked to Physical, Psychological Gains & Preserving Privacy When Living with SMA

Wheelchair Hockey Linked to Physical, Psychological Gains & Preserving Privacy When Living with SMA

SMA News Today’s multimedia associate, Price Wooldridge, reads an article about how men with spinal muscular atrophy or Duchenne muscular dystrophy who played wheelchair hockey showed quality of life ...

24 Tammi 202210min

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