Neuromuscular Disease News and Research

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Smartphones match traditional methods in monitoring patients with muscular dystrophy

Stanford Medicine researchers found that a smartphone could monitor patients with two types of muscular dystrophy as well as traditional methods and diagnose conditions more accurately — at no cost.

3 Nov 2025

Study reveals how TDP-43 causes neuronal overactivity in ALS and FTD

A new Northwestern University study using patient nervous tissue and lab-grown human neurons has uncovered how a key disease protein, TDP-43, drives overactive nerve cells in the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

31 Oct 2025

CHEST advocacy prompts major changes in COPD ventilation coverage

The American College of Chest Physicians (CHEST) announces a critical milestone in its long-standing advocacy to ensure patients with COPD receive timely access to the most appropriate noninvasive ventilation (NIV) therapies.

17 Sep 2025

New genetic discovery could change how Friedreich's ataxia is diagnosed

A University of Oklahoma researcher is the first to discover that the sequence of the genetic defect in the neuromuscular disease Friedreich's ataxia isn't always as uniform as previously thought, a breakthrough finding that could spark changes in how the condition is diagnosed and studied.

21 Jul 2025

Study reveals a molecular connection between autism and myotonic dystrophy

A recent discovery of a molecular connection between autism and myotonic dystrophy, a type of neuromuscular disease, may provide a breakthrough on how clinicians approach autism spectrum disorder.

21 Apr 2025

Researchers uncover genetic link between autism spectrum disorder and myotonic dystrophy type 1

Scientists from The Hospital for Sick Children (SickKids) and University of Las Vegas Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic condition called myotonic dystrophy type 1 (DM1).

21 Apr 2025

ALL ALS Consortium creates a central information hub to accelerate ALS research

The Access for All in ALS (ALL ALS) Consortium announced the launch of its official website, creating a central hub for information about its initiatives and clinical research studies. ALL-ALS.org is designed to inform and engage researchers, clinicians, and current and prospective study participants.

31 Mar 2025

Neurostimulation improves movement in adults with spinal muscle atrophy

A new drug-free, minimally invasive intervention targets the root cause of progressive loss of neural function in spinal muscle atrophy (SMA), an inherited neuromuscular disease.

5 Feb 2025

International experts to gather for ALS symposium in Chicago

The 2024 Les Turner Symposium on ALS will be held on Monday, Nov. 4 in Chicago. Hosted by the Les Turner ALS Foundation and the Les Turner ALS Center at Northwestern Medicine, this event will assemble internationally-renowned ALS researchers, clinicians, advocates, and people living with ALS to discuss the latest research and perspectives on the disease.

3 Oct 2024

Eliminating race adjustment in lung function tests may alter diagnosis and disability eligibility

Removing race from equations that estimate lung function will shift the categorization of disease severity across patient populations, moving more Black individuals into an advanced disease category, according to new research led by scientists at Harvard Medical School.

20 May 2024

Real-world data validates gene therapy for spinal muscular atrophy

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA).

15 Apr 2024

Patient-specific muscle models pave way for personalized neuromuscular therapies

Scientists have so far identified around 800 different neuromuscular diseases. These conditions are caused by problems in the way muscle cells, motor neurons and peripheral cells interact.

19 Dec 2023

First successful Phase 2 trial uses cutting-edge RNA CAR-T therapy to treat autoimmunity

Cartesian Therapeutics, a clinical-stage biotechnology company pioneering cell therapies for autoimmune diseases, announced today the publication of a landmark paper in The Lancet Neurology.

22 Jun 2023

Using human iPSC-derived cells to revolutionize the field of neurodegenerative disease

In this interview, we speak to Axol Bioscience about their human iPSC-derived cells and how they have the potential to revolutionize the field of neurodegenerative disease.

From Axol Bioscience Ltd 28 Nov 2022

Vaccines and monoclonal antibodies being developed for respiratory syncytial virus

A new study reviews recent advancements made in the development of RSV immunoprophylactic measures.

11 Aug 2022

UT Southwestern researchers reveal the physical mechanism behind a neurological autoimmune disease

Using UT Southwestern's Cryo-Electron Microscopy Facility, researchers for the first time have captured images of an autoantibody bound to a nerve cell surface receptor, revealing the physical mechanism behind a neurological autoimmune disease.

11 Jul 2022

New consensus-based recommendations designed to improve quality of life for DMD patients

Many more adults with Duchenne muscular dystrophy (DMD) are living longer thanks to improvements in treatment, however international standards of care have not yet fully addressed the complex needs of these patients.

9 Dec 2021

Identifying an important protein for motor coordination

News-Medical speaks to Professor Jorge Ruas about how he has identified an important protein involved in motor coordination.

10 Nov 2021

Study reveals the role of SPOP protein in an inherited form of ALS

The damaging effects of toxic proteins created in one inherited form of amyotrophic lateral sclerosis (ALS) are mediated by a protein called SPOP, according to a study published in the Proceedings of the National Academy of the Sciences.

8 Nov 2021

A new 3D model for myotonic dystrophy

Myotonic dystrophy is a hereditary degenerative neuromuscular disease that occurs mainly in adults, affecting about 50,000 people only in Spain.

4 May 2021