Latest News
Serum Leptin Levels Not Associated With Disease Severity in SMA Type 2 or 3
Retinal Defects May Be Reversible in SMA
Single-Cell RNA Sequencing Shows Cellular Subtype Variation in Spinal Cord in SMA
New Technique Developed to Identify Nusinersen Serum Metabolites in SMA
Researchers Identify Potential New SMA Modifier Gene
Motor and Functional Scales Have Pros and Cons When Evaluating Adults With SMA
Trial Testing Crossover From Nusinersen to Risdiplam Opens
Ventilatory Requirements Unchanged After Nusinersen Treatment in Children With SMA
Adults With SMA Could Benefit From AAV9-Based Therapy
Latest Clinical Trials
Insights
The Two Prongs of Therapeutic Strategies Used to Counter Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is inherited in an autosomal recessive manner and is caused by abnormalities in the survival motor neuron 1 (SMN1) gene. The overwhelming majority of patients with SMA have a homozygous deletion of the gene; only 5% of cases have a heterozygous deletion and a point mutation. “The SMN protein is critical…
The Relationship Between SMA, Adiposity, and Fatty Acid Metabolism Defects
Spinal muscular atrophy has been linked with increased adiposity and fatty acid oxidation defects in patients with the disease.
The Role of BMI as a Health Measurement in People With SMA Type 2
We review the role of BMI as a health measurement in general, and specifically in people with SMA type 2.
The Role of Telemedicine in the Treatment of Neuromuscular Disease
The acceleration of telemedicine during the pandemic has allowed us to gain vast insights into what works and what does not.
Patient Perspectives
The Innocence of Children Helps Make My SMA Journey Easier
Living with spinal muscular dystrophy (SMA) is wrought with constant emotional ups and downs.
SMA Awareness Month Demonstrates How Much Progress Has Been Made
I rejoice now, living in an era when spinal muscular atrophy (SMA) has been gifted the privilege of a whole month (August) dedicated to awareness.
Finding the Good in Being a Rare Disease Patient
It’s easy to discuss and concentrate on the lack of experiences one misses out on while living with a rare disease such as spinal muscular atrophy (SMA).
SMA Features
The Alliance for Regenerative Medicine Fights for Better Cell, Gene Therapies
The Alliance for Regenerative Medicine aims to help in the development of safe and effective regenerative therapies that can benefit rare disease patients.
The Brains Behind Nusinersen: A Visit With Geneticist Adrian Krainer, PhD
Five years after the approval of nusinersen (Spinraza®) for SMA, Adrian Krainer, PhD, is immensely proud of his role in developing the lifesaving drug.
MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019.
SMA Patients, Families Struggle in War-Torn Ukraine, Europe’s Poorest Country
Sofijka and Lukyan Radysh are among an estimated 300 to 400 SMA patients in Ukraine, Europe’s poorest country as measured by annual per-capita income.
Rare Care Podcast
An interview with SMA researcher Adrian Krainer, PhD, from the Cold Spring Harbor Laboratory.
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