Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.
“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”
BELOW click on hyperlink for full study in PDF form.
A recent republished article appeared in Pediatrics. Dr. Calderon described 6 cases of Congential Myotonic Dystrophy that had global delay. He also complied 55 cases 53 or which had global developmental delay. The diagnosis were by muscle biopsy then no DNA tests were available. The information urged using this as a differential diagnosis.
Informal reports continue to give good vibes on the drug that Isis pharmaceuticals is developing for myotonic dystrophy (DM). The drug is an antisense approach one that will break up the clogs that are causing the DM disease. Very little information is being released by the company, however.
The fast fail initiative is considering many potential autism drugs including Isis Pharmaceutical’s pending drug to treat myotonic dystrophy. This “FAST FAIL” initiative funded by NIH looks at promising drugs to treat Autism and several other conditions. It enables the drug to go to human trials earlier and see if the drug will pan out. The Isis drug by far is the most probable drug to treat and reverse the course of the Autism disease.
NIH officials announced yesterday that a new contract has been let with UCLA to form a network of researchers at various academic institutions to identify promising new and older drug compounds to treat Autism Spectrum Disorder (ASD) and to see if they merit additional investments.
The program is part of a new initiative called “Fast Fail” intends to vastly speed up the drug development process and reduce the costs of this drug development. Instead of taking years of work to see if a drug works this Fast Fail process could see results within weeks. As ASD is a huge issue for the USa and other countries this fast testing with myotonic dystrophy drugs could lead to treatments in a much faster time frame.
Dr. James McCraken who is leading the effort at UCLA states “The Whole idea is just getting much better in these early phases at identifying drugs that are going to be efficacious and safe and thereby speeding the development of effective new therapies and reducing the overall cost”