|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.
A genetic specialists was called from Nova Scotia's Isaac Walton Killam (IWK), Hospital, to come up and access the new baby, Aiden. After studying his birth records, talking with the nurses, examining Aiden himself, he determined that genetic testing should be done on Aiden, his brother Brian, their Mother Christin and on her father David.
Aiden and Brian were found to have Congenital Myotonic Muscular Dystrophy and Christin and her father, David, had adult onset of this condition.
Even though this was a tough diagnosis for the family, it explained a lot of individual health problems that had occurred over the years and linked a lot of them back to this Myotonic Dystrophy.
To learn more about this disorder, please go to:
Muscular Dystrophy Canada
What causes myotonic dystrophy?
Myotonic dystrophy is caused by an error in genes located on chromosome 19 or chromosome 3. The basic default in DM1 is an inherited mutation in the myotonic dystrophy protein kinase gene. At the present time, it is not known how the genetic abnormality causes the disorder.
How is myotonic dystrophy inherited?
Myotonic dystrophy is transmitted vie autosomal dominant pattern of inheritance. Autosomal refers to the fact that the faculty gene appears on one of the 22 chromosomes no associated with determining the sex of the child (in this case, chromosome 19). Dominant refers to the fact that th disorder is passed down by one parent of either sex who also has the disorder. There is no carrier status. Each child born to an affected parent has a 50% chance of inheriting the disorder.
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.