Tag

Spinal Muscular Atrophy

All articles tagged with #spinal muscular atrophy

health1 month ago•5 min saved

England to screen all newborns for SMA in national five-year trial

England will run a five-year national trial to test every newborn for Spinal Muscular Atrophy (SMA) starting October 2027, led by Professor Laurent Servais of the University of Oxford, to evaluate adding SMA to the routine heel-prick blood spot test for effectiveness, practicality, and cost to the NHS. The phased rollout begins in Birmingham, Manchester and London before nationwide expansion, with initial screening around 400,000 babies and about 600,000 per year thereafter, aiming to identify roughly 60 SMA cases annually. The trial follows a Thames Valley pilot that diagnosed Teddy, highlighting potential benefits, and comes amid campaigning by Jesy Nelson for universal SMA screening.

via BBC|

#health #jesy-nelson #newborn-screening

health4 months ago•6 min saved

Knee-Worn Robot Enhances Leg Strength in Children with SMA Under Gene Therapy

A six-week study of a lightweight knee-mounted wearable robot providing isokinetic resistance improved knee function in six children with type 2 SMA who were receiving gene therapy, increasing quadriceps size by ~20% and more than doubling knee-extension strength, with MRI and nerve tests confirming muscular and neuromuscular gains and parents reporting easier daily movements at home; results suggest home-based rehab could augment gene therapy, though it’s not yet clear if the device offers unique advantages over other high-intensity exercise.

via Nature|

#gene-therapy #health #isokinetic-training

technology4 months ago•10 min saved

Pocket-sized isokinetic trainer yields lasting neuromuscular gains in SMA

A lightweight portable isokinetic training robot (0.96 kg) provides safe, customizable resistance for juvenile SMA type II rehabilitation. In a six-participant trial over six weeks, users improved sit-to-stand ability, showed substantial gains in knee torque, range of motion, and muscular hypertrophy, and exhibited better femoral nerve conduction. Notably, these benefits persisted after discontinuing the device and resuming conventional therapy, indicating that short-term exposure to wearable isokinetic training can yield enduring neuromuscular recovery.

via Nature|

#isokinetic-training #neuromuscular-rehabilitation #quadriceps-hypertrophy

health9 months ago•2 min saved

Jesy Nelson Opens Up About Her Twins' Rare Diagnosis and Future

Jesy Nelson, former Little Mix member, shared that her twin daughters have been diagnosed with the severe and rare genetic disorder SMA Type 1, which may prevent them from walking or regaining neck strength. She emphasizes the importance of early treatment and raising awareness, expressing hope for her daughters' future despite the challenges.

via USA Today|

#health #jesy-nelson #rare-disease

health9 months ago•3 min saved

Jesy Nelson's Twin Babies Diagnosed with SMA, May Never Walk

Jesy Nelson, former Little Mix singer, shared that her twin babies, born prematurely, have been diagnosed with severe genetic disorder SMA1, which may prevent them from walking. She emphasized the importance of early diagnosis and treatment, and hopes to raise awareness about the condition to help other families.

via The Guardian|

#awareness #genetic-condition #health

health9 months ago•3 min saved

Colchester boy's life transformed after £1.8m drug treatment

A five-year-old boy from Colchester with SMA has made remarkable progress after receiving the world's most expensive gene therapy, Zolgensma, which has transformed his mobility and quality of life, highlighting significant advances in treatment for rare genetic conditions.

via BBC|

#children #gene-therapy #health

health2 years ago•2 min saved

"Miracle at Last: Infant with Spinal Muscular Atrophy Leaves Hospital for Home"

Marshall Bowling, a 14-month-old boy diagnosed with spinal muscular atrophy, received a breakthrough gene therapy at Akron Children’s Hospital, allowing him to go home after a prolonged hospital stay. The $3 million therapy was covered by insurance, but Marshall faced subsequent health challenges, including a collapsed lung and a virus. Shortage of home nursing care posed a challenge, but Marshall's emotional "clap out" marked his departure from the hospital, bringing joy and relief to his family and caregivers.

via WJW FOX 8 News Cleveland|

#akron-childrens-hospital #gene-therapy #health

healthcare3 years ago•9 min saved

When a $2 million gene therapy falls short: Exploring the limitations and consequences

Patients with spinal muscular atrophy (SMA) who received the gene therapy Zolgensma are increasingly requiring additional drugs, raising questions about the long-term effectiveness and value of high-cost gene therapies. While Zolgensma has shown positive results for many patients, a significant number have needed supplementary treatments to achieve desired outcomes. This challenges the perception that gene therapies can provide a complete cure and raises concerns about the justification of their exorbitant prices. The experience with Zolgensma highlights the need for further research and real-world data to determine the true value and cost-effectiveness of gene therapies.

via Reuters|

#additional-therapies #drug-pricing #gene-therapy