Case Reports: Adult-Onset Spinal Muscular Atrophy Linked to Variations in VRK1 Gene in Hispanic Patients
Using a series of case reports, the researchers assessed the various clinical phenotypes associated with variations in the VRK1 gene.
Neuromuscular Disorders
What Is the Optimal Surgical Approach to Thymectomy in Myasthenia Gravis?
This meta-analysis of studies comparing 2 or more surgical approaches vs thymectomy aimed to identify the best option for myasthenia gravis patients.
FIREFISH Trial Shows Risdiplam Benefits in Infants With Type 1 Spinal Muscular Atrophy
Researchers evaluated the safety and efficacy of risdiplam in infants with type 1 spinal muscular atrophy compared with historical cohorts.
TP73 Gene Variants Tied to Risk for Sporadic Amyotrophic Lateral Sclerosis
Researchers used sequencing data to evaluate the pathogenicity of TP73 variations in amyotrophic lateral sclerosis.
Spinal Muscular Atrophy: Early Diagnosis for Proactive Management
Early diagnosis and treatment of SMA can limit disease progression in children and adults, extending life expectancy and improving QOL.
Efgartigimod Therapy Well-Tolerated and Efficacious for Generalized Myasthenia Gravis
A team of researchers assessed the safety, efficacy, and tolerability of efgartigimod for the treatment of patients with generalized myasthenia gravis.
Researchers to Study Optimized Home-Based Respiratory Management in ALS
Researchers from South America presented a protocol for a randomized trial to study the effects of an optimized home-based respiratory care approach in patients with ALS.
SARS-CoV-2 May Be Linked to Immune-Mediated Myopathy
In this case-control autopsy series, study researchers evaluated skeletal muscle and myocardial inflammations in patients with severe COVID-19 who died.
Exservan Now Available for Amyotrophic Lateral Sclerosis
According to the CDC, more than a thousand cases of myocarditis and pericarditis following mRNA COVID-19 vaccination have been reported to the Vaccine Adverse Event Reporting System since April 2021.
Long-term Safety of Onasemnogene Abeparvovec in Spinal Muscular Atrophy
Study researchers sought to assess the safety of onasemnogene abeparvovec for the treatment of infants with spinal muscular atrophy.
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