Myopathy News and Research

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The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).

Biochemical switches could be triggered to treat pathology of IBM, ALS and FTD

St. Jude Children's Research Hospital scientists have found that the enzymes ULK1 and ULK2 play a key role in breaking down cell structures called stress granules, whose persistence leads to toxic buildup of proteins that kill muscle and brain cells.

11 Apr 2019

Researchers discover underlying cause of hereditary muscle disease

Researchers at Karolinska Institutet have discovered the underlying cause of a hereditary muscle disease first characterised in a Swedish family in 1980. It proves to be the first identified disease caused by defective myoglobin, the protein that transports oxygen in muscle cells.

27 Mar 2019

Researchers identify molecule to fight myotubular myopathy

Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva, Switzerland, - working in collaboration with the University of Strasbourg, France, - have identified a molecule that not only greatly reduces the progression of the disease but also boosts life expectancy in animal models by a factor of seven.

19 Nov 2018

Toxic protein assemblies found to play beneficial role in muscle generation

Toxic protein assemblies, or "amyloids," long considered to be key drivers in many neuromuscular diseases, also play a beneficial role in the development of healthy muscle tissue, University of Colorado Boulder researchers have found.

1 Nov 2018

Micropeptide molecule could be promising gene therapy target to treat heart failure

Researchers have discovered a micropeptide molecule that can restore normal heart function in mice, according to a study in eLife.

10 Oct 2018

Study opens new avenues for treatment of Laing distal myopathy

New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. In a study published in the journal PNAS, researchers have identified an enzyme with a clear link to how the disease develops.

21 Sep 2018

Patients and families gather to gain more awareness, knowledge about myositis

In early 2015, Mike Matthews, a teacher, social worker, and counselor for the State of Kentucky, experienced a constellation of apparently unrelated health problems that doctors could not diagnose. He lost more than thirty pounds, had trouble swallowing and speaking, developed a rash over his knuckles and other parts of his body, and experienced extreme muscle weakness and fatigue.

29 Aug 2018

MDA announces 34 new grants totaling $9.9 million to accelerate neuromuscular research

The Muscular Dystrophy Association today announced the award of 34 new grants totaling more than $9.9 million for its summer round of funding. These new grants represent a continued commitment by MDA to fund groundbreaking research that will accelerate treatments and cures for the more than 40 diseases in its program.

24 Aug 2018

New study focuses on promise of gene therapy for Amish nemaline myopathy

A new comprehensive natural history study about Amish nemaline myopathy in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder.

14 Aug 2018

Study sheds new light on link between calorie-burning fat and muscle function

Abundant in human babies and small mammals, brown adipose tissue, or brown fat, was only recently discovered in human adults, and its role remains unclear.

3 Aug 2018

Study identifies potential genetic link in sudden infant death syndrome

Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting a possible genetic element of the disorder, according to a case-control study in the UK and USA published in The Lancet.

29 Mar 2018

Researchers determine cause of difficult-to-control mitochondrial diseases

A Japanese research group has discovered that taurine is conjugated with mitochondrial transfer RNAs (tRNAs), small RNAs that decode genetic information, and that taurine deficiency in tRNA dramatically reduces both mitochondrial protein translation and impairs mitochondrial membrane integrity.

7 Mar 2018

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

Researchers identified a new, more sensitive screening test to recognize Pompe disease, a metabolic disorder affecting cellular processing of glycogen in numerous tissues of the body.

2 Jan 2018

New classification criteria offers faster, more accurate path to diagnosing myositis diseases

The ability to diagnose myositis diseases and treat them properly just improved immensely. For more than 40 years, the criteria physicians have used to diagnose most myositis diseases has been based on expert opinion, not hard science.

21 Dec 2017

New gene therapy trial for X-linked myotubular myopathy offers hope to children

Ann & Robert H. Lurie Children's Hospital of Chicago is one of the few centers participating in ASPIRO, an international Phase 1/2 clinical trial of a gene therapy product called AT132 for X-linked myotubular myopathy – a rare disease characterized by severe muscle weakness, breathing difficulty and early death.

8 Nov 2017

Scientists identify basic biological mechanism that kills neurons in ALS

A team led by scientists at St. Jude Children's Research Hospital and Mayo Clinic has identified a basic biological mechanism that kills neurons in amyotrophic lateral sclerosis (ALS) and in a related genetic disorder, frontotemporal dementia (FTD), found in some ALS patients.

16 Aug 2017

Exoskeleton device helps man with disabling condition to complete 10K race

Martin Jarry was a police officer in Quebec. He coached a youth hockey team. He was used to being active, used to working out, used to being strong. But when Jarry was diagnosed with inclusion body myositis (IBM), he had to do some serious re-evaluating of his activities.

10 Aug 2017

Synthetic compound that reads mitochondrial DNA could lead to treatments for nerve, muscle diseases

For the first time, a synthetic compound has been made that can bind to DNA in the cells' energy powerhouses, suppressing a gene associated with nerve and muscle disease.

11 Jul 2017

New research offers crucial step towards understanding cause of myopathy

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

6 Jul 2017

New position paper recommends sex-specific cardiovascular drug dosages for better treatment

Sex-specific cardiovascular drug dosages are needed to reduce adverse reactions in women, according to a position paper from the European Society of Cardiology published today in the June issue of European Heart Journal - Cardiovascular Pharmacotherapy.

15 Jun 2017