Neuromuscular

Over an 18-month period, patients showed strengthened scores on Rasch-built Overall Disability Scale, a patient-reported outcome measure of activity and social participation.

Here's some of what is coming soon to NeurologyLive® this week.

In this segment, the panel discussed adult-onset 5q spinal muscular atrophy (SMA), highlighting its frequent underdiagnosis and subtle symptoms such as cramps, fasciculations, and sports intolerance.

The discussion highlighted the need for national or local protocols, insurance approvals, and close collaboration with families to optimize patient outcomes.

Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending October 11, 2024.

In this discussion, experts provide key considerations in the process of newborn screening for SMA, noting the need for developing local protocols and understanding the limitations of screening infants early in life.

AOC 1001, also known as del-desiran, has shown promising results in improving muscle strength and reducing myotonia in patients with DM1, with patients even reporting better daily activities like hand grip strength.

Catch up on any of the neurology news headlines you may have missed over the course of September 2024, compiled all into one place by the NeurologyLive® team.

In this episode, experts discuss groundbreaking updates in spinal muscular atrophy diagnosis, emphasizing the importance of early intervention and newborn screening.

After 52 weeks of treatment, no significant differences were found in cardiac MRI measures such as ejection fraction, end diastolic volume, or circumferential strain between the two groups.

The decision follows positive data from multiple trials, showing significant improvement in both cardiac function and muscle performance in patients with DMD.

Alexander disease, a rare leukodystrophy estimated to occur in 1 in 1 million patients in the United States, has no FDA-approved treatments to date.

In this episode, our panel of experts delves into the latest updates on spinal muscular atrophy diagnosis, focusing on the critical role of newborn screening, early intervention, and evolving classification methods for improved patient outcomes.

No serious adverse events were reported, and the therapy demonstrated a favorable safety profile over the 5-year study period.

The hope is that NP001 could potentially slow the progression of the disease through its unique immunologic mechanism.

Overall, vatiquinone-treated patients demonstrated persistent effects on disease progression over a 144-week long-term period, leading to a future regulatory submission.

RAG-18 is an saRNA delivered to muscle tissue to increase UTRN expression and compensate for DMD defects regardless of the location of mutation on DMD gene.

Patients aged 2-21 receiving apitegromab showed clinically meaningful motor function improvements, with a favorable safety profile consistent with long-term data, as Scholar Rock prepares for U.S. and EU regulatory submissions in Q1 2025.

The orphan medicinal product designation given by the European Commission was based on findings produced in research funded by the United States Department of Defense.

Ongoing analysis of vamorolone's effects as a mineralocorticoid receptor antagonist in healthy adults is underway, with results to be presented at upcoming medical conferences.

Take 5 minutes to catch up on NeurologyLive®'s highlights from the week ending October 4, 2024.

Amifampridine enhances neuromuscular transmission and relieves muscle weakness, showing promise for Lambert-Eaton myasthenic syndrome and other neuromuscular junction disorders.

The Total Posterior Spine System offers a promising alternative to spinal fusion, preserving mobility and reducing strain on adjacent spinal levels in patients with spondylolisthesis and spinal stenosis.

As part of our monthly clinician spotlight, NeurologyLive® highlighted neuromuscular-associated cardiomyopathy expert Forum Kamdar, MD, PhD, FACC, FHFSA, an advanced heart failure physician-scientist at the University of Minnesota.