* The report assesses
Myotonic Dystrophy therapeutics based on drug target, mechanism of action (MoA), route of administration (RoA) and molecule type
Myotonic discharge is the most prominent or earliest isolated performance in electromyography.
The
myotonic dystrophies: diagnosis and management.
Myotonic dystrophy (DM1) is an inherited, chronic, and progressive neuromuscular disorder that may occur rarely at birth (congenital form) or more commonly manifest during adulthood.
Myotonic dystrophy is the commonest adult neuromuscular disorder, but affected individuals may also present with cataracts, cardiac conduction defects or neonatal hypotonia.
* The report reviews key players involved in the therapeutics development for
Myotonic Dystrophy and enlists all their major and minor projects
Myotonic dystrophy type 2 is a relatively rare form of muscular dystrophy that is somewhat milder than
myotonic dystrophy type 1, the most common adult-onset form of the disease.
Myotonic dystrophy (DM) is a common neuromuscular disorder comprising at least two genetically different forms.
Harley et al., "Molecular basis of
myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 31 end of a transcript encoding a protein kinase family member," Cell, vol.
These cell lines include one disease free pluripotent cell line and 24 others with individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and
Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
These cell lines include one disease free pluripotent cell line and 24 others widi individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and
Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
As a proof of principle, in the new study the team designed a molecule that disabled the RNA causing
myotonic dystrophy.