SMA News Today Home | SMA News Today
网页2024年9月18日 · Babies born prematurely were diagnosed with spinal muscular atrophy (SMA) through newborn screening programs (NBS) in Germany and, in most cases, started on treatment before disease symptoms emerged, a retrospective study reports. Doctors, however, waited to initiate treatment until many of the …
Spinal Muscular Atrophy: Cardiac Disease – HCP SMA News Today
网页Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease, 1 but it is increasingly clear that the pathology of SMA extends beyond ventral horn spinal cord neurons and includes the heart among other organs. 2 In patients with SMA, tissue levels of SMN1 protein are reduced in heart tissues, 3 and numerous mouse models of SMA exhibit cardiac developmental abnormalities which ...
Zolgensma’s Journey from Lab Idea to Gene Therapy for SMA
网页2019年5月27日 · Where Zolgensma’s story diverges from others, however, is in its very success. It is now the first gene therapy approved by the U.S. Food and Drug Administration (FDA) to treat spinal muscular atrophy, a severe and genetic neuromuscular disease. Specifically, it may be given to newborns through toddlers up to age 2 with any type of SMA.
With Zolgensma, Gene Therapy Takes Step Forward in Treating …
网页by Emma Yasinski May 31, 2019. Zolgensma ‘s approval as the first gene therapy for treating all forms of spinal muscular atrophy (SMA) in children up to 2 years old is another step forward — an exceptional and far-reaching one — in the seeming revolution underway in treating more diseases, and an increasing number of rare ones, by ...
SMA gene therapy – SMA News Today
网页About one in every 50 people is a carrier for spinal muscular atrophy (SMA), meaning these individuals have one copy of the SMN1 gene that carries a disease-causing mutation. SMA will only develop if both copies of the SMN1 gene — one inherited from each biological parent — contain a disease-causing mutation. If two carriers have children, there’s a 25% chance the child will develop SMA ...
Spinal Muscular Atrophy: Nutrition and Supplementation
网页The nutritional management of patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) is complex and is achieved optimally with an individualized approach from a multidisciplinary care team. 1,2 Patients with SMA need nutritional monitoring at least annually with assessment of caloric intake and standard ...
Spinal Muscular Atrophy and Genetics – SMA News Today
网页Did You Know? SMA has a wide spectrum of severity that is mostly explained by differences in the number of copies of the backup gene, SMN2.However, up to 40% of the variability in disease severity is not associated with the number of SMN2 copies. Possible factors may be genes that produce proteins that directly interact with the SMN protein or are connected to its proper function.
Spinal Muscular Atrophy: Chewing and Swallowing Problems
网页In a survey including patients with SMA, approximately one third of patients reported at least one feeding or swallowing issue. 4 Follow-up surveys refined and elaborated on this estimate. In a survey of patients with SMA type 2, 30% of these patients reported difficulty in opening their mouths, 28% experienced chewing difficulties, and 25% had ...
Study: Heart Problems in SMA May Be Tied to Calcium Dysregulation
网页2020年5月22日 · by Marta Figueiredo, PhD May 22, 2020. Heart problems associated with spinal muscular atrophy (SMA) may be caused partially by calcium dysregulation in heart muscle cells in the absence of the survival motor neuron (SMN) protein, a study suggests. These findings not only shed light on the underlying mechanisms of heart problems in …
Zolgensma may safely benefit older, heavier SMA children: Study
网页2023年12月15日 · In this study, scientists reviewed data from 99 children with type 1 SMA who received Zolgensma treatment at centers in the U.K. Most of the children were treated in the first year of life and weighed less than 8.5 kg (about 18 lbs), though 21 of the children were ages 2 or older and seven children weighed more than 13.5 kg at the time of treatment.