Fact sheet on Congential Myotonic Dystrophy English and Turkish

The Muscular Dystrophy Association in Australia is providing information on Congenital Myotonic Dystrophy in English and has recently translated this information into Turkish. Here is a link to both these brochures!

Congenital Myotonic Dystrophy Brochure

Congenital Myotonic Dystrophy Turkish

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SRT-149 Myotonic Dystrophy & Autism Drug Candidate

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.

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Dr. Eckstrom Doctoral Thesis on Childhood Myotonic Dystrophy

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

 

 

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

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.

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Financial Assistance for DM1 kids with Autism or ASD

As many parents with children with myotonic dystrophy know a high percentage of kids with this disease have autism or autism spectrum disorder. Because the childhood form is not a separate disease this often cause a lack of support from the medical profession. This website is building awareness of the autism and ASD within the myotonic dystrophy community.

Often kids with DM1 and Autism disorders need help and assistance. I have found an organization that assits with Autistic kids and gives grants. The group is called Act-Today.
They are a great organization and have given many grants. Click on the name above to go to their website. Here are a few of the people that they have helped. This is a great organization and I would encourage you to visit their website. IF needed you can apply for a grant for assistance!.

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