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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Cold Weather and Myotonic Dystrophy

COLD WEATHER and MYOTONIC DYSTROPHY

There is no definitive information on cold weather and it’s effects on patients with myotonic dystrophy vary from person to person. Some individuals have reported problems, and here is some information collected from various resources. Its clear that for some individuals there is a mild moderate effect, for others its more severe. If possible plan long term to move to a more temperate climate without harsh winters.

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The Effect of Myotonic Dystrophy on Daily Life

This post refers to a study done by Cynthia Gagnon one of the preeminent researchers in myotonic dystrophy. In 2007 a study was published and this post is based on that article. Click here for a full copy of the scientific study ==>Life Habits with Myotonic Dystrophy

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New Approach Cures some RNA toxicity in Fly’s and Mice with Myotonic Dystrophy

Another strategy for a cure of for myotonic dystrophy treatment

Researchers at the University of Valencia in Spain led by Amparo Garcia-Lopez recently identified a new way to block the genetic change that causes myotonic dystrophy type 1. They used a fruit fly model to screen for potential drugs and then tested the most promising one in mice. The muscles of the treated mice appeared healthier under the microscope. This new research is encouraging and if replicated in humans it would be expected to be an effective treatment.

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