News

To help with stress or anxiety brought on by the COVID-19 pandemic or other issues, adult patients with spinal muscular atrophy (SMA) in the U.S. are being offered up to three half-hour live video sessions with a licensed therapist. The Adults with SMA Virtual Therapy Program is free…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Children with spinal muscular atrophy (SMA) type 1 may have neurodegeneration in several areas of the brain, with impaired cognitive function and profound speech difficulties, according to a review study. However, brain involvement in this severe type of SMA is understudied and further research — using objective measures and…

Parents of children with spinal muscular atrophy (SMA) reported different perspectives and concerns about Spinraza (nusinersen) therapy in an interview-based study, done to further understand the decision-making process involved in choosing whether to try the new treatment. The findings showed that, while many parents were focused…

Targeting a specific region of an intermediate molecule generated from the SMN2 gene increased the levels of functional SMN — the protein lacking in spinal muscular atrophy (SMA) — in cells derived from SMA patients, a study shows. In addition, combining this approach with a splicing modifier similar to…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A 6-year-old boy was found to have a rare form spinal muscular atrophy (SMA) associated with progressive myoclonic epilepsy, a disease type known as “SMA plus” and not related to mutations in the causative gene for SMA, a case study reported. SMA…

Assistive equipment is vital to enhancing function, fun, and social participation in children with severe disabilities such as spinal muscular atrophy (SMA) and should be considered standard-care therapies, along with  medications such as Spinraza (nusinersen). A recent scientific study reviewed the available literature on assistive devices and equipment,…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Young adults with spinal muscular atrophy (SMA) exhibited thigh muscle decline despite stable strength and motor function over one year, a pilot study using quantitative MRI imaging demonstrated.  The scientists said this non-invasive muscle imaging technique shows its potential as a…