Muscular Dystrophy Press Releases

Stem cells have been hailed as a toolkit to treat a host of diseases, but at an NIH symposium on May 6, researchers said they are still deciphering the toolkit’s instruction manual.

One of the biggest challenges in developing useful gene therapy is finding a way to get the beneficial gene into enough cells of the body to effectively treat the disease. Now, researchers have shown in rodents that a virus called adeno-associated virus 8 (AAV8) can effectively deliver a gene to all the skeletal muscles of the body. If it works the same way in humans, this virus-based approach may allow the first effective gene therapy for muscular dystrophy (MD) and similar diseases.

One of the biggest challenges in developing useful gene therapy is finding a way to get the beneficial gene into enough cells of the body to effectively treat the disease. Now, researchers have shown in rodents that a virus called adeno-associated virus 8 (AAV8) can effectively deliver a gene to all the skeletal muscles of the body. If it works the same way in humans, this virus-based approach may allow the first effective gene therapy for muscular dystrophy (MD) and similar diseases.

A newly identified genetic problem underlies a common neuromuscular disorder called facioscapulohumeral muscular dystrophy (FSHD), scientists say. In a new study, they show that deletion of repetitive DNA sequences in people with this disorder allows nearby genes to go into overdrive. The finding solves a decade-old riddle about the cause of this disorder and may ultimately lead to the first effective treatments.
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Researchers have revealed what may be a totally new cause for muscular dystrophy (MD). A recent study shows that a protein defective in two types of late-onset MD plays a critical role in the normal repair of muscles.
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Researchers have developed a genetic test that detects a common form of muscular dystrophy with 99 percent accuracy. The accurate diagnosis of myotonic muscular dystrophy type 2 (DM2) allows researchers to fully describe its clinical features for the first time.
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Researchers have developed a simple and affordable blood test that detects the most common form of muscular dystrophy (MD) in more than 95 percent of cases.
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New studies reveal exciting clues to the mystery of how synapses form between nerve and muscle cells. The findings shed new light on human development and may help reveal how molecular interactions are altered in muscular dystrophy.

Researchers have revealed what may be a totally new cause for muscular dystrophy (MD). A recent study shows that a protein defective in two types of late-onset MD plays a critical role in the normal repair of muscles.
Fact Sheet

Researchers have developed a simple and affordable blood test that detects the most common form of muscular dystrophy (MD) in more than 95 percent of cases.
Fact Sheet

Researchers have developed a genetic test that detects a common form of muscular dystrophy with 99 percent accuracy. The accurate diagnosis of myotonic muscular dystrophy type 2 (DM2) allows researchers to fully describe its clinical features for the first time.
Fact Sheet

A newly identified genetic problem underlies a common neuromuscular disorder called facioscapulohumeral muscular dystrophy (FSHD), scientists say. In a new study, they show that deletion of repetitive DNA sequences in people with this disorder allows nearby genes to go into overdrive. The finding solves a decade-old riddle about the cause of this disorder and may ultimately lead to the first effective treatments.
Fact Sheet

Scientists have identified the gene altered in one of the most common hereditary ataxias, spinocerebellar ataxia 2 (SCA2). The discovery allows improved genetic testing and provides new clues about how genetic mutations cause several neurological disorders, including Huntington's disease. The findings are reported by three different groups in the November issue of Nature Genetics.

New studies reveal exciting clues to the mystery of how synapses form between nerve and muscle cells. The findings shed new light on human development and may help reveal how molecular interactions are altered in muscular dystrophy.

Scientists have identified a new type of trinucleotide repeat mutation that leads to Friedreich's ataxia (FA), a rare childhood neurodegenerative disease. The discovery allows accurate screening for carriers of the disease and may lead to the first effective treatments.

Using a novel strategy, scientists at the National Institute of Neurological Disorders and Stroke (NINDS) have isolated key identifying regions of more than 400 genes that work inside the human brain. The scientists say their work should help identify genetic defects that cause brain disease and speed progress of genetics research.