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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Scientists uncover role of HTRA3 protease in Cockayne syndrome

Scientists uncover role of HTRA3 protease in Cockayne syndrome

Scientists from the Institut Pasteur and CNRS, in collaboration with scientists from the Institut Gustave Roussy and CEA, have succeeded in restoring normal activity in cells isolated from patients with the premature aging disease Cockayne syndrome. They have uncovered the role played in these cells by an enzyme, the HTRA3 protease. [More]
Vitamin E helps build strong muscles

Vitamin E helps build strong muscles

Body builders have it right: vitamin E does help build strong muscles, and scientists appear to have figured out one important way it does it. [More]
TGen-led study associates 'X-linked' syndromes to genetic origins

TGen-led study associates 'X-linked' syndromes to genetic origins

A study led by the Translational Genomics Research Institute has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins. [More]
GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. [More]
Parents share arduous, circuitous journey to get referrals for childhood epilepsy surgery

Parents share arduous, circuitous journey to get referrals for childhood epilepsy surgery

Having a child diagnosed with epilepsy can be a frightening and confusing time. Now, parents share their arduous and "circuitous" journey to get referrals for pediatric epilepsy surgery once their child's disease stops responding to anti-seizure medications. The UCLA study sheds light on the difficulties parents face obtaining specialty and sub-specialty care for their children during an already stressful time. [More]
aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

aTyr Pharma, a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today that Resolaris has been granted Orphan Drug Designation by the U.S. Food and Drug Administration for the treatment of facioscapulohumeral muscular dystrophy (FSHD). [More]
Joseph Roche receives grant to develop improved exercise programs for people with dysferlinopathies

Joseph Roche receives grant to develop improved exercise programs for people with dysferlinopathies

The Wayne State University Eugene Applebaum College of Pharmacy and Health Sciences today announced that Joseph Roche, assistant professor for the physical therapy program in the Department of Health Care Sciences, received a one-year, $100,000 grant from the Jain Foundation for "Developing a Multi-Pronged Strategy for the Clinical Management of Dysferlinopathies," a project that seeks to develop better exercise programs for people with dysferlinopathies, or dysferlin-linked muscular dystrophies. [More]
University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin. [More]
TGen scientists discover the likely cause of rare type of muscle weakness in six children

TGen scientists discover the likely cause of rare type of muscle weakness in six children

Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness. [More]
New study opens door to preventative treatments for congenital diaphragmatic hernia

New study opens door to preventative treatments for congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is not as well known as muscular dystrophy and cystic fibrosis, but like them it is a life-threatening birth defect, and is just as common. Occurring in one in 3,000 births, CDH causes the guts and liver to protrude through a defective diaphragm and into the chest cavity, where they interfere with the lungs. [More]
UVA researcher identifies potential therapeutic target for myotonic muscular dystrophy

UVA researcher identifies potential therapeutic target for myotonic muscular dystrophy

A doctor who was one of the discoverers of the gene responsible for myotonic muscular dystrophy has now identified a therapeutic that could modify progression of muscle damage and muscle dysfunction associated with the disease - issues that cause patients significant disability and deterioration in quality of life. [More]
Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations. [More]
TWi Biotechnology obtains Rare Disease Drug designation in Taiwan for use of AC-203 to treat EBS

TWi Biotechnology obtains Rare Disease Drug designation in Taiwan for use of AC-203 to treat EBS

TWi Pharmaceuticals, Inc. today announced that its fully owned subsidiary, TWi Biotechnology, Inc., has received the designation of Rare Disease Drug by Taiwan FDA for use of AC-203 to treat Epidermolysis Bullosa Simplex (EBS), and is eligible for applying for coverage under National Health Insurance Administration. [More]
Researchers reveal role of abdominal muscles in muscular dystrophy process

Researchers reveal role of abdominal muscles in muscular dystrophy process

The muscular dystrophies are known to target various muscle groups differentially. In addition to making limb muscles weak, muscular dystrophy (MD) can also lead to decreased function of specific muscles involved in respiration causing breathing difficulties as well as leading to cardiac problems. [More]
Researchers generate mature, functional skeletal muscles using new approach

Researchers generate mature, functional skeletal muscles using new approach

A team of researchers from Italy, Israel and the United Kingdom has succeeded in generating mature, functional skeletal muscles in mice using a new approach for tissue engineering. The scientists grew a leg muscle starting from engineered cells cultured in a dish to produce a graft. [More]
Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers have demonstrated a genetic therapeutic technique that has the potential to treat more than half of the patients suffering from Duchenne Muscular Dystrophy (DMD). [More]

EC grants orphan drug designation to aTyr Pharma's Resolaris for treatment of FSHD

aTyr Pharma, Inc., a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today the European Commission (EC) has granted orphan drug designation to Resolaris for the treatment of facioscapulohumeral muscular dystrophy (FSHD). [More]
Public health researchers report frequency of two muscle-weakness disorders

Public health researchers report frequency of two muscle-weakness disorders

Researchers in public health have reported in the first broad study in the United States the frequency of two muscle-weakness disorders that strike mostly boys: Duchenne muscular dystrophy and Becker muscular dystrophy. [More]
First human clinical study of ChromaDex's NIAGEN nicotinamide riboside meets primary endpoint

First human clinical study of ChromaDex's NIAGEN nicotinamide riboside meets primary endpoint

ChromaDex Corp. announced today that the initial results of the first human clinical study for the company's NIAGEN nicotinamide riboside (NR) has met its primary endpoint. [More]
UI Children's Hospital named Certified Duchenne Care Center by PPMD

UI Children's Hospital named Certified Duchenne Care Center by PPMD

The University of Iowa Children's Hospital was named a Certified Duchenne Care Center by Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) and demanding optimal care for all people with Duchenne. [More]
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