Spinal Muscular Atrophy

Estonia-based Study Assesses Prevalence, Characteristics of SMA Diagnoses

January 21st 2022, 8:15pm

Article

Over the 24-year period, there were 57 spinal muscular atrophy diagnoses in 53 families, and a disease birth prevalence of 1 per 8286 births in Estonia.

Non-SMN Approaches Offer Alternative, Supportive Strategies for SMA Treatment

January 15th 2022, 8:00pm

Article

Outside of survival motor neuron (SMN) treatment, there are several alternatives used in cases where SMN approaches are not appropriate for treating spinal muscular atrophy (SMA).

Nusinersen Likely to Improve QOL for Patients With SMA

January 11th 2022, 1:30pm

Article

Across most questionnaire domains, patients reported improvements to their quality of life (QOL) while receiving treatment for spinal muscular atrophy (SMA) with nusinersen.

Research Highlights Significantly Higher Risk of Mortality Among Patients With SMA Prior to Nusinersen Approval

January 7th 2022, 9:15pm

Article

Based on the data from over 5000 patients with spinal muscular atrophy (SMA) and 50,000 age-matched controls, patients with SMA had a nearly 1.8-fold higher mortality rate.

Lesser Studied Nonrespiratory Complications in Nusinersen-Treated SMA1 May Affect Outcomes

January 5th 2022, 12:07pm

Article

The respiratory complications of spinal muscular atrophy are well-researched, but a new study provides insight into nonrespiratory complications that may be just as crucial.

Case Series Gives Insight Into Surgical Intervention for SMA Patients with Severe Scoliosis

December 23rd 2021, 9:30pm

Article

Patients with spinal muscular atrophy often present with severe scoliosis but face an elevated risk of complications from corrective surgery.

Top 5 Most-Read Spinal Muscular Atrophy Stories of 2021

December 22nd 2021, 2:00pm

Article

The top 5 most-read spinal muscular atrophy stories of 2021 on AJMC.com covered a variety of topics concerning the disease, including cost differences, the potential for combination therapies, and identifying biomarkers for treatment.

New Imaging Approach May Assess Disease Burden in Patients With SMA

December 18th 2021, 12:30am

Article

If further studies confirm a benefit by using Multispectral Optoacoustic Tomography (MSOT), the technology can help forge a path toward a noninvasive, bedside, nonionizing approach to early visualization of disease as well as evaluation of disease burden and disease progression in patients.

Scoliosis Surgery for Pediatric SMA1 Comes With Serious Complications, Study Says

December 11th 2021, 1:21am

Article

A case series of corrective surgeries in children with severe scoliosis due to spinal muscular atrophy (SMA) type 1 showed a positive success rate, but with significant postoperative complications.

Pilot Program Underscores Importance of Newborn Screening to Identify, Treat SMA

December 2nd 2021, 6:30pm

Article

Testing for spinal muscular atrophy in an Australian newborn screening program identified patients across socioeconomic and cultural demographics, mitigating inequity and providing patients with access to multidisciplinary treatment.