Myotonic dystrophy is a triplet repeat disorder. There are two types: Type 1 and Type 2. Type 1 is more common and is caused by an abnormally large number of repeats of the CTG triplet on the DMPK gene located on chromosome 19. Less than 50 repeats is normal, but people with myotonic dystrophy type 1 can have a thousand or more. Persons with myotonic dystrophy type 1 experience a variety of issues, including neuromuscular and cardiac conduction problems. Many estimate there are around 30,000 persons in the United States with myotonic dystrophy. However, the condition is underdiagnosed, and a recent study utilizing newborn bloodspots indicates there may be around 100,000 myotonic dystrophy patients in the United States, with another 150,000-200,000 in the European Union.
While myotonic dystrophy is the most prevalent form of muscular dystrophy, historically it has also been the form of muscular dystrophy receiving the least amount of investment. That's starting to change. In the last year tens of millions of dollars have been invested in companies developing treatments for myotonic dystrophy. Various approaches have received significant investments, including small molecules, antisense oligonucleotides, gene therapies, and gene editing drugs. This site seeks to track the progress of these companies as they race to develop the first effective treatment for myotonic dystrophy type 1.
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