Tag Archives: myotonic dystrophy

SRT-149 Myotonic Dystrophy & Autism Drug Candidate

Posted on by
Reply

Good news today! Another company has launched a potential drug for myotonic dystrophy and by extension this may also treat the childhood forms of myotonic dystrophy. The childhood forms of myotonic dystrophy are highly associated with autism spectrum disorder, so it is hopeful that this new drug will have some effects on this as well as the cognitive effects in the adult forms of the disease. For the general autism population reversing the effect in the childhood forms of myotonic dystrophy. May help narrow the mechanism of action and suggest certain treatments in the future. The childhood form of myotonic dystrophy is one of the few single gene causes of autism. Because the drug will work through an RNA mechanism, it is  unlikely this drug will have a direct effect on the general autism population.

Continue reading →

Dr. Eckstrom Doctoral Thesis on Childhood Myotonic Dystrophy

Posted on by
Reply

Here is a copy of Dr. Eckstrom Thesis on Childhood Myotonic Dystrophy. Its pretty comprehensive and a bit technical. Click below to open a PDF Copy. The thesis is almost 90 pages long and full of a lot of good information. Dr. Eckstrom is one of the leaders in the knowledge of childhood myotonic dystrophy and Autism

EckStrom Doctoral Thesis Childhood Myotonic Dystrophy

 

 

Continue reading →

Arbaclofen – Will it help kids/adults with Myotonic Dystrophy?

Posted on by
1

While poking around looking for solutions and help in the autism area I found a lot of help and support. And I found a new drug that is being tested now in Phase II studies. Its being tested for a sister disease that has a lot in common with Myotonic Dystrophy. Fragile X is a triple repeat disease and has some symptoms similar to myotonic dystrophy kids.  Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity.

Both of these diseases are single gene cause of mental retardation  and autism. Perhaps the drug that treats one may be applicable to the other.

The good news is that there is a drug in late stage development that might help with autism in kids with myotonic dystrophy. This drug is called arbacofen and has been successfully tested in not only in kids with fragile X but also in other kids with autism as well. The outcome is promising and the studies are continuing. Its fairly advanced with studies in the Phase IIb, which means they are getting close to commercialization.

Continue reading →

Donate Tissue and Body to Science Myotonic Dystrophy

Posted on by
1

Many people have asked if they can help with myotonic dystrophy research. I recently became aware of a program where at death you can donate your body to science and they will use tissue samples etc. to further research into myotonic dystrophy. The researchers are always in need of tissue samples and some of these can only be obtained after death.

Although the death of a loved one is devastating the gift of life in research can live on and others can benefit from the donation that is made. Think about this and see if it fits your needs and desires. IF desired fill out the pages and leave with your will.

The Paul and Sheila Wellstone Muscular Dystrophy center in Minneaplois, MN is coordinating this. The hot lines to call are (612)626-0822 and (612) 899-5964 Karac001@umn.edu

Please click here for the forms that are needed.

What is a Possible Cause of Autism?

Posted on by
Reply

In doing a little digging about autism and myotonic dystrophy, Fragile X is a disease that pops right to the top of the screen. This is also a triplet expansion disease and it has a couple of similarities especially to some of the childhood forms of myotonic dystrophy. Fragile x causes mental retardation (Global developmental delay) as well as many of the kids have Autism or Autism spectrum disorder. Here is a review of Autism and Fragile X

Continue reading →