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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Autism and Myotonic Dystrophy

Autism and Myotonic Dystrophy

What Is Autism?

Autism or autistic spectrum disorder (ASD) is a behavioral diagnosis. The range of symptoms in autism vary and are generally characterized by an impaired ability to communicate and interact socially with other people. Sometimes children will not meet the diagnostic criteria for autism but will have “autistic-like features.”

The diagnosis of autism is usually made by a developmental or general pediatrician, neurologist, psychologist, psychiatrist, or other specialist. The diagnosis is made after evaluating the child using a number of different behavioral tools and tests. There is no blood test for autism, and imaging studies such as MRIs don’t diagnose the condition; it is purely a behavioral diagnosis similar to ADHD, ADD, etc.

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Biogen / Isis Partnership Readies Autism Drug For Human Clinical Trials

A not well know secondary effect of a drug that Biogen and Isis are jointly developing  may reverse some or all the effects of a specific single gene  type of autism.  This drug will be entering Human Trials in 2014 if all goes well.   In August Biogen and Isis announced a collaboration on a drug that looks extremely promising to treat a form of muscular dystrophy, Myotonic Dystrophy. But it may also reverse the symptoms of autism that occurs in some not well known forms of myotonic dystrophy in children. This could be a sleeper drug that may help with this larger and more pervasive societal problem.

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Brain and Behavior Indicators in Myotonic Dystrophy (Autistic)

A new study from France gives some additional information for children that have myotonic Dystrophy. While not as comprehensive and the studies done in Sweden this gives good basic information on the condition. This information is very help to set up IEP goals and to know what issues for parents and professionals to expect. The study did not specifically mention Autism but many of the items described would be considered autistic in the USA
CONCLUSION: Children and adolescents with childhood DM1 have frequent diagnosis on the DSM-IV axis 1 with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.