Neuromuscular Disorder News and Research

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Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

Researchers at The Ohio State University Wexner Medical Center and College of Medicine led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

19 Sep 2023

New therapy to mitigate fragile X syndrome may be on the horizon

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 2023

Manipulating a signaling protein to slow down muscular dystrophy

A team of researchers at the University of Houston College of Pharmacy is reporting that by manipulating TAK1, a signaling protein that plays an important role in development of the immune system, they can slow down disease progression and improve muscle function in Duchenne muscular dystrophy (DMD).

25 May 2023

Novel molecule may help overcome the devastating symptoms of Duchenne muscular dystrophy

In a new study published in The FASEB Journal, investigators demonstrated the potential of a molecule that may help overcome some of the devastating symptoms of Duchenne muscular dystrophy (DMD), the most common life-limiting congenital neuromuscular disorder.

5 Apr 2023

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance

A positive effect of nusinersen treatment on motor function in ambulant pediatric and adult spinal muscular atrophy (SMA) patients during a 38-month period has been demonstrated by an analysis of data from the SMArtCARE registry.

15 Feb 2023

Mutant mice with a human gene variant exhibits ADHD-like problems

Mutant mice are providing scientists with a new neurobiological framework to understand the brain changes observed in distractible humans who carry a common gene variant whose frequency has been associated with Attention Deficit Hyperactivity Disorder (ADHD).

7 Apr 2022

Inflammatory chemicals involved in fat metabolism play key role in ALS, study shows

A new study using genetically engineered mice and human cell and tissue samples has added to evidence that higher levels of inflammatory chemicals involved in fat metabolism occur in people with amyotrophic lateral sclerosis (ALS), the neuromuscular disorder, also known as Lou Gehrig's disease.

15 Nov 2021

Researchers illustrate the importance and value of sharing negative research results

In the era of "publish or perish," research results that disprove the hypothesis tested often go unpublished. In addition, many researchers who have been unable to reproduce results from other laboratories have found it difficult to publish their findings.

18 Oct 2021

C-Path opens access to D-RSC database to accelerate therapy development for DMD

Critical Path Institute announced today that it will open access to the Duchenne Regulatory Science Consortium (D-RSC) database to qualified researchers, through its Rare Disease Cures Accelerator, Data and Analytics Platform.

22 Apr 2021

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

A Keele researcher will embark on a two-year study to identify affordable treatments to help children living with spinal muscular atrophy.

15 Apr 2021

Charcot-Marie-Tooth disease study unearths a new mechanism of neurodegeneration

Charcot-Marie-Tooth disease is an inherited neurodegenerative condition that affects 1 in 2500 individuals.

21 Nov 2019

C-Path and FARA announce launch of Friedreich's Ataxia Integrated Clinical Database

Critical Path Institute's Data Collaboration Center and the Friedreich's Ataxia Research Alliance today announced the launch of the Friedreich's Ataxia Integrated Clinical Database.

28 Feb 2019

TGen identifies polio-like virus as potential cause of Acute Flaccid Myelitis outbreak

The Translational Genomics Research Institute, an affiliate of City of Hope, has identified a polio-like virus as a potential cause of an outbreak of a disease known as Acute Flaccid Myelitis (AFM), a crippling condition that causes muscle weakness and paralysis usually among children.

23 Jan 2019

ALS and frontotemporal dementia share genetic connections

Nearly half of all patients with amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disorder, develop cognitive problems that affect memory and thinking.

9 Apr 2018

New medication improves motor function in children with later-onset spinal muscular atrophy

Children with later-onset spinal muscular atrophy (SMA) were more likely to show gains in motor function when treated with a new medication compared to children receiving a sham procedure, according to a study published today in the New England Journal of Medicine.

15 Feb 2018

Newborn screening for SMA favored by most people, study finds

Research from the University of Warwick indicates that most people are in favor of newborn screening for the potentially deadly condition spinal muscular atrophy (SMA).

6 Dec 2017

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease.

25 Oct 2017

Neuromuscular Disorder News and Research

Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

New therapy to mitigate fragile X syndrome may be on the horizon

Manipulating a signaling protein to slow down muscular dystrophy

Novel molecule may help overcome the devastating symptoms of Duchenne muscular dystrophy

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance

Mutant mice with a human gene variant exhibits ADHD-like problems

Inflammatory chemicals involved in fat metabolism play key role in ALS, study shows

Researchers illustrate the importance and value of sharing negative research results

C-Path opens access to D-RSC database to accelerate therapy development for DMD

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

Charcot-Marie-Tooth disease study unearths a new mechanism of neurodegeneration

C-Path and FARA announce launch of Friedreich's Ataxia Integrated Clinical Database

TGen identifies polio-like virus as potential cause of Acute Flaccid Myelitis outbreak

ALS and frontotemporal dementia share genetic connections

New medication improves motor function in children with later-onset spinal muscular atrophy

Newborn screening for SMA favored by most people, study finds

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Preclinical study demonstrates efficacy of gene therapy in treatment of Duchenne muscular dystrophy

New study lays foundation for future gene replacement therapies to treat ALS patients

Researchers identify factors that increase risk of cardiac arrest during pediatric spine surgeries

Neuroscience - Second Edition eBook

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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