Neuromuscular Disorder News and Research

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

Scientists have demonstrated for the first time that it is possible to specifically modify gene expression in diseased upper motor neurons, brain cells that break down in ALS.

1 Feb 2016

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

Although the vast majority of pediatric spine surgeries are safe, a handful of neuromuscular conditions seem to fuel the risk of cardiac arrest during such operations, according to research led by investigators at the Johns Hopkins Children's Center.

18 Nov 2015

Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Scientists at the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) have shown that fruit flies and brewer's yeast can reveal clues about the cause of Spinal Muscular Atrophy (SMA), the most common genetic killer of infants.

30 Jun 2015

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Good Start Genetics, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists being held in San Francisco, Calif.

7 May 2015

Scientists reveal mechanism underlying cellular degeneration of upper motor neurons

For the first time, scientists have revealed a mechanism underlying the cellular degeneration of upper motor neurons, a small group of neurons in the brain recently shown to play a major role in ALS pathology.

31 Jan 2015

2014 DIA patient fellows illustrate the power of patient advocacy

The 2014 DIA patient fellows illustrate the power of patient advocacy. A Parkinson's disease patient is the driving force in the success of clinical trials, recruiting patients and transporting them to research sites while saving researchers thousands of dollars.

9 Jun 2014

Edison Pharmaceuticals' EPI-743 granted orphan designation for Leigh syndrome in Japan

Edison Pharmaceuticals has announced that the Japanese Ministry of Health, Labor and Welfare (MHLW) has granted Orphan Designation to EPI-743 for the treatment of Leigh syndrome.

21 May 2014

New mouse study indicates that mutant protein in muscle cells is responsible for SBMA

Sometimes known as Kennedy's disease, spinal and bulbar muscular atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy.

17 Apr 2014

Plant pigment could prevent damage to nerves linked with childhood form of SMA

The research team have found that a plant pigment called quercetin - present in some fruits, vegetables, herbs and grains - could help to prevent damage to the nerves associated with the childhood form of motor neurone disease, spinal muscular atrophy (SMA).

5 Mar 2014

Researchers develop valid humanized model for facioscapulohumeral muscular dystrophy

Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with a much needed tool to accelerate novel therapeutic research and development.

28 Jan 2014

Joint research program in SMA enters initial stage of clinical development

PTC Therapeutics, Inc., the SMA Foundation, and Roche, announced today that their joint research program in Spinal Muscular Atrophy has entered the first stage of clinical development aiming to assess safety and tolerability of an oral compound in healthy volunteers.

22 Jan 2014

Study focuses on vaccine-preventable illnesses in myasthenia gravis patients

A study presented at the annual meeting of the American Association of Neuromuscular & Electrodiagnostic Medicine is considered a good first step in collecting data on vaccine-preventable illnesses in patients with myasthenia gravis, a neuromuscular disorder causing weakness and rapid fatigue of voluntary muscles.

17 Oct 2013

The association alfa-enolase/plasmin is a new selective target for treating muscular pathologies

Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) have described a new selective target in muscle regeneration. This is the association of alpha-enolase protein and plasmin.

19 Dec 2012

Positive results from Edison’s EPI-743 phase 2A study on Leigh Syndrome

Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)."

13 Sep 2012

Friedreich Ataxia Research Alliance, USF ARC to host ‘Understanding a Cure’ symposium

Scientists, clinicians and patients will gather at the University of South Florida's Center for Advanced Medical Learning and Simulation (CAMLS) in downtown Tampa Sept. 6 to share research insights and energize the search for a cure for Friedreich's ataxia and related disorders.

28 Aug 2012

Researchers identify two gene mutations that cause neuromuscular disorder

Research into how carbohydrates are converted into energy has led to a surprising discovery with implications for the treatment of a perplexing and potentially fatal neuromuscular disorder and possibly even cancer and heart disease.

25 May 2012

FDA approves Levaquin for plague

The U.S. Food and Drug Administration today approved Levaquin (levofloxacin) to treat patients with plague, a rare and potentially deadly bacterial infection. The agency also approved the drug to reduce the risk of getting plague after exposure to Yersinia pestis, the bacterium that causes the disease.

30 Apr 2012

Two new studies analyze treatment decisions in late-stage ALS patients

Two new studies analyzing treatment decisions in late-stage amyotrophic lateral sclerosis (ALS) patients shed light onto treatments aimed to extend the duration and quality of life in this progressively debilitating neuromuscular disorder.

21 Apr 2012

Invasive strategy benefits patients with myotonic dystrophy type 1 neuromuscular disorder

Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their heart's electrical conduction system and if needed, implantation of a device such as a pacemaker, had an associated higher rate of 9-year survival compared to patients treated noninvasively, according to a study in the March 28 issue of JAMA.

28 Mar 2012

Intravenous immune globulin effective treatment for GBS, CIDP

Intravenous immune globulin (IVIg) is an effective treatment for certain disorders of the nerve and muscles, including Guillain-Barré syndrome (GBS) and a form of neuropathy called chronic inflammatory demyelinating polyneuropathy (CIDP), according to a guideline issued by the American Academy of Neurology.

27 Mar 2012