Tag Archives: DM1

Living with Myotonic Dystrophy – Information for Patients and Families

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So whats it like living with Myotonic Dystrophy? It’s a highly variable and complex disease so each person’s journey is different. There are some commonalities. A study was done a ways back to see how couples coped with the disease. This study can be helpful for families with the disease, and extended families to help them see the disease and to provide more support. A common theme is that the couple seems to have to find their own way, that there is not one entity that can point them in the right direction. Even family and friends need help and  direction in understanding the disease. This article is easier to read than most medical articles.

Click here for Study/Article Living with Myotonic Dystrophy

This study was done in the Netherlands which has produced a lot of good information on Myotonic Dystrophy. This article can be shared with family members.

MDA Issues Winter Research Grants

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The Muscular Dystrophy Association of the USA (MDA) announced its winter research grants. 13.6 million was awarded including two grants for Myotonic Dystrophy research. One grant to doctor Disney will explore the possible therapeutic effects of small molecule approach for DM2. This would be a strong complement to the DM1 research that is ongoing in his lab.

The other grant to Dr. Mockton is to research the effect of Triplet expansion and stability on the likely course of the Myotonic Dystrophy Disease.

MDA is spending 4.6 of its research grant budget this winter on Myotonic Dystrophy Research.

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Donate Tissue and Body to Science Myotonic Dystrophy

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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.

Autism and Myotonic Dystrophy

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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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Provigil Survey Finds Strong Support From Myotonic Dystrophy Patients

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For quite a few years, I have been strongly advocating the use of Provigil the brand name for modafinil for helping with sleep related issues n Myotonic Dystrophy. Many patients with myotonic dystrophy have tremendous issues with excessive sleep and sleep disruptions.  A study from France in 2009 concluded that a controlled study showed “no significant effects on daytime sleepiness” This study puzzled me as many patients reported very good results from this drug.

A survey conducted by the Myotonic Dystrophy Support Group,  MDSG in England has concluded that over 80% of survey respondents found that the drug had a marked benefit or a dramatic benefit. This concurs with the informal feedback that I have had here in the USA. This also focuses attention on patient centered approaches versus medical centered approaches. Patient centered approaches are very important to give direct patient feedback rather than just visibility to medical professionals opinions based on limited patient facts.

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