Saturday, April 28, 2012

Beginning with Knowledge - Part 5

Together We're Stronger
Our family has been affected by Myotonic Dystrophy, for many years. I've been wanting to blog about it for some time now, but didn't know how to begin. 

There is way too much information to cover in one post. So, to make it easier for me...and easier for everyone reading to understand, I have decided to break it up into a series of weekly posts.

As we travel this journey of learning together, I would like to think of this blog as a place where, if any others are affected, they too can offer comments and voice their concerns and suggestions on families dealing with this condition.

All comments and thoughts are my own. Resource information will be linked to it's source.
Our story-continued:

After receiving a diagnosis of not one, but four, family members who had this condition, we knew we'd have a long journey ahead of us. The geneticist suggested DNA testing of my husband's siblings, as well as the children of his father's siblings. So far only one brother has been known to be affected and not to the extent of any in our family. For that we're thankful!
DNA testing along with a family history and physical examination was all that was needed to make a diagnosis in our case.
But without Aiden's birth in 2004, none of this would have come about. It was because of him that this condition was diagnosed in our family and our journey began.

How is myotonic dystrophy diagnosed?
A physician makes a diagnosis based on family history and a physical examination. Tests that will assist the physician in making his diagnosis include DNA analysis, an electromyelogram (to measure electrical activity in the muscle), a muscle biobsy (to study muscle cells for signs of the disease) and in the case of possible cataracts, and eye examination.

Is there any cure or treatment for myotonic dystrophy?
There is no cure for myotonic dystrophy at the present time. Treatment is symptomatic. That is, problems associated with myotonic dystrophy are treated individually. For example, surgery is available for the correction of cataracts. Medication may be prescribed to counter the effects of myotonia. A heart specialist, depending on what symptoms are experienced, will treat heart problems. Speech therapy and a modified school environment can assist children with developmental delays. Remaining as active as possible is recommended for everyone with myotonic dystrophy.

For more information on this condition, please go to: Myotonic Dystrophy


The material provided on this site is designed for information and educational purposes only. The materials are not intended to be a self diagnostic and/or self treatment tool. I encourage you to use this information as a tool for discussing your condition with your health practitioner.


  1. Another great post Kathy, with a lot of very important and interesting information.

    1. Thanks for checking out this blog and my latest post. I appreciate the support.

  2. Thank you for sharing---this is important information.

    1. Thanks for stopping by my post. I hope you found some useful information on this subject.

  3. Well, please disregard prior comment, I am familiar with the Dx, I got confused with the "Myotonic" term as "muscular dystrophy" is a more popular name. Nonetheless I'm looking forward to learning more about this condition.

    Thank you Kathy for sharing your story and journey.