News

March 1, 2021March 1, 2021

Evrysdi Seen to Improve Survival, Motor Development of Infants with SMA Type 1

News

Genentech’s Evrysdi (risdiplam) improved survival in infants with spinal muscular atrophy (SMA) type 1, and allowed them to achieve developmental milestones not usually seen in the natural course of the ... Read more

February 26, 2021February 26, 2021

Mother Raises 4 Adopted Girls From China With SMA, Chronic Illnesses

News

When Josylnn Jones McLaughlin moved to Guangzhou, China, to teach conversational English in 2012, she didn’t expect to bring home two girls, one with spinal muscular atrophy (SMA) and the ... Read more

February 25, 2021February 25, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

News, syndicated

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 24, 2021February 24, 2021

Cure SMA Offers Free Virtual Therapy Sessions

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 ... Read more

February 22, 2021February 22, 2021

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

News, syndicated

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 ... Read more

February 22, 2021February 22, 2021

Brain Involvement in SMA Type 1 Still Poorly Understood, Review Finds

News

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. ... Read more

February 19, 2021February 19, 2021

Study Finds Varying Perspectives From Parents on Spinraza Therapy for Children

News

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 ... Read more

February 17, 2021February 17, 2021

New SMN-boosting Molecule Shows Promise as Add-on Therapy

News

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 ... Read more

February 16, 2021February 17, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

News, syndicated

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 ... Read more

February 15, 2021February 15, 2021

Rare Case of SMA Linked With Myoclonic Epilepsy Detailed in Report

News

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 ... Read more