Tag Archives: myotonic dystrophy

Brain and Behavior Indicators in Myotonic Dystrophy (Autistic)

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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.

Myotonic Dystrophy Are we too narrow or do we need to expand the focus?

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As many of you know there is substantial research now underway for drug therapies for Myotonic Dystrophy. Drug companies are interested as it is the largest population of adult form of muscular dystrophy and it is likely that patients will need to take drugs periodically to insure the condition does not come back.

The most promising of these therapies is Antisense? What is AntiSense you wonder?
Antisense oligonucleotides – short segments of genetic material designed to target specific areas of a gene or chromosome – that activated an enzyme to “chew up” toxic RNA (ribonucleic acid) could point the way to a treatment for a degenerative muscle disease called myotonic dystrophy, said researchers from Baylor College of Medicine and Isis Pharmaceuticals, Inc., in a report in the journal Proceedings of the National Academy of Sciences.

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The Laboratories….. Researchers working on Myotonic Dystrophy

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Here are a few of the labs working on Myotonic Dystrophy

Dr. Puymirat Quebec, Canada
The major aim of the Puymirat lab is to develop a genetic therapy for Steinert dystrophy. During the last few years, the Puymirat lab developed a genetic approach capable of restoring normal functions of the affected human muscle cell. Indeed, Steinert dystrophy is caused by an abnormal accumulation of RNA in the nucleus of muscle cells. The therapy developed by the Puymirat lab is based on the specific destruction of RNA using antisense RNA and ribozymes. The research group showed in vitro that specific destruction of mRNA restored normal functions of the cell. In vivo, intramuscular injection of vectors producing antisense RNA or ribozymes reduced the levels of mutated RNA by 80%. The team is currently studying the effectiveness of this therapy in mice carrying the pathology.

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New Novel Drug – Testing in Myotonic Dystrophy – Isis

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Recently Isis Pharmaceuticals gave a talk at the myotonic dystrophy foundation conference in San Fransisco, CA. This talk including just information that had been publicly given out previously. However, one of the lead researchers in the Myotonic Dystrophy field commented that this new drug that Isis is pursuing in collaboration with Biogen could be the “Fountain of Youth Drug”. The basic mechanism of antisense technology, if aging is caused by cell clogging with these proteins that are not being released to proper area. This could be a hug huge blockbuster drug that would exceed everyone potential.

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Diagnosing Autism in Myotonic Dystrophy

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Many Children and some adults may have autistic like tendencies or autism. Several studies have indicated that ASD or autism like behaviors are present in there children. It could be your child only a few of these symptoms. IT could be they have quite a few of them. You will need a multidisciplinary team to do a formal assessment. However, as a parent you can get a sense of whether or not your child has some of these tendencies. This information is from Autism Speaks. Here is some additional information to consider:

Symptoms

What Are the Symptoms of Autism?

Autism spectrum disorders (ASD) are characterized by social-interaction difficulties, communication challenges and a tendency to engage in repetitive behaviors. However, symptoms and their severity vary widely across these three core areas. Taken together, they may result in relatively mild challenges for someone on the high functioning end of the autism spectrum. For others, symptoms may be more severe, as when repetitive behaviors and lack of spoken language interfere with everyday life.

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