Myotonic Dystrophy News and Research

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RNA toxicity contributes to neurodegenerative disease

Expanding on prior research performed at the University of Pennsylvania, Penn biologists have determined that faulty RNA, the blueprint that creates mutated, toxic proteins, contributes to a family of neurodegenerative disorders in humans.

27 May 2008

RNA toxicity contributes to neurodegenerative disease

21 May 2008

Practice parameters discuss treatment for narcolepsy, other hypersomnias of central origin

Practice parameters published in the December 1 issue of the journal SLEEP serve as both an update of previous practice parameters for the therapy of narcolepsy and as the first practice parameters to address treatment of other hypersomnias of central origin, including idiopathic hypersomnia, recurrent hypersomnia and hypersomnia due to medical condition.

3 Dec 2007

Researchers identify compound that eliminates myotonia - a symptom of muscular dystrophy

Researchers at the University of Rochester Medical Center (URMC) have identified a compound that eliminates myotonia - a symptom of muscular dystrophy - in mice. The research was published online in the Journal of Clinical Investigation.

16 Nov 2007

ClC-1 helps mice get a move on

In addition to the progressive muscle weakness and degeneration common to all forms of muscular dystrophy, patients with the most common form of muscular dystrophy affecting adults, myotonic dystrophy type 1 (DM1), also experience an inability to voluntarily relax the muscles (a problem known as myotonia).

16 Nov 2007

Children with neuromuscular diseases at risk for decreased bone density

Children with neuromuscular diseases such as muscular dystrophy, may be at risk for suboptimal bone density due to low levels of vitamin D.

18 Oct 2007

RNA-binding protein key to understanding myotonic dystrophy type 1

Increased levels of a protein called CUGBP1 play an important role in the adult-onset form of muscular dystrophy called myotonic dystrophy type 1, said Baylor College of Medicine researchers in a report that appears in the journal Molecular Cell.

12 Oct 2007

Groundbreaking research on type 1 congenital myotonic dystrophy

Each year, the parents of an estimated one in 20,000 newborns are shocked to learn their child has type 1 congenital myotonic dystrophy (CDM1), a progressive and crippling genetic disorder.

24 May 2007

A new way of recognising DNA

Scientists led by Mike Hannon at the University of Birmingham and Miquel Coll at the Spanish Research Council in Barcelona have discovered a new way that drugs can attach themselves to DNA, which is a crucial step forward for researchers who are developing drugs to combat cancer and other diseases.

16 Feb 2006

Breakthrough in gene therapy

Despite a roller-coaster ride of ups and downs during the past 15 years, gene therapy has continued to attract many of the world's brightest scientists. They are tantalized by the enormous potential that replacing missing genes or disabling defective ones offers for curing diseases of many kinds.

3 Jun 2004

MDA researchers find creatine helps in Duchenne dystrophy

Grip strength in the dominant hand and fat-free body mass (made mostly of muscle) increased when children with Duchenne muscular dystrophy (DMD) took the dietary supplement creatine at a dose of 0.1 grams per kilogram of body weight per day for four months.

25 May 2004

Completion of the sequencing of human chromosome 19

The United States Department of Energy (DOE) Joint Genome Institute (JGI) and Stanford University report today the completion of the sequencing of human chromosome 19, the most gene-rich of all the human chromosomes. This achievement is described in the April 1, 2004 edition of the journal Nature.

7 Apr 2004