SMA 特征性的呼吸系统病理生理改变主要为肋间肌无力、胸廓变形以及肺容量和通气能力降低，这些病理改变导致 SMA 患儿出现夜间和日间低通气、咳嗽减弱、痰液堵塞、反流与误吸、肺不张、反复呼吸道感染等呼吸系统问题[3]。

Gene therapy is linked to better nonmotor outcomes in spinal muscular atrophy type 1 compared to first-line nusinersen, new ...

Spinal muscular atrophy (SMA) type 1 is a genetic condition in which the nerves that control movement, breathing, and swallowing become progressively weaker and smaller. SMA has five types with ...

PHILADELPHIA--(BUSINESS WIRE)--Exegenesis Bio, a rapidly growing global genetic medicines company, is pleased to announce the presentation of clinical efficacy and safety data from its EXG001-307 ...

– Infants treated with Evrysdi maintained or continued to improve in measures of motor function, including their ability to sit without support for 5 and 30 seconds – – Evrysdi has proven efficacy in ...

Imagine a child born in a family with a rare disease, whose treatment would cost more than 17 crore for a single dose. The ...

Spinal muscular atrophy (SMA) life expectancy varies between types. The most severe types of SMA have a life expectancy of less than 2 years, while less severe types do not impact life expectancy. The ...

According to researchers, the most prevalent risk factors in children with type 1 spinal muscular atrophy (SMA) are hypercalciuria and elevated urine specific gravity. Children with spinal muscular ...

Biomarkers for SMA were identified using LC-MS and machine learning, revealing differences in protein expression across SMA types. CNTN1 and NRXN3 proteins showed potential as prognostic biomarkers, ...

(RTTNews) - Novartis (NVS) announced new data that reinforce the transformational benefit of Zolgensma (onasemnogene abeparvovec), an essential one-time treatment for spinal muscular atrophy or SMA.