What is Myotonic Muscular Dystrophy?

My mother and brother both died with the same disease – myotonic muscular dystrophy. Myotonic Muscular dystrophy is a rare, genetic and currently incurable disease. It affects about 1 in 8500 people, but on a worldwide scale, it is estimated that perhaps ONE MILLION PEOPLE are affected genetically.

Many more are “affected” because a family member has myotonic dystrophy like in my situation, or because they know a neighbor, or someone at their school. Myotonic dystrophy is caused by an “autosomonal dependent” mutation on a chromosome that does not determine gender. To put it in human terms, if one out of two children of a person with myotonic dystrophy will most likely have the disease, then I am the lucky one From My Mother.

Jo Lyn Bartz, my mother affected by myotonic muscular dystrophy, over the years

There is a lot of science out there about myotonic muscular dystrophy, and a lot of it is kind of a hard read, but here are some good sources I’d point you to first:

Overview with pictures and stories I cite in From My Mother http://quest.mda.org/series/focus-myotonic-muscular-dystrophy/focus-myotonic-muscular-dystrophy

Genetics of MD – http://www.myotonic.org/sites/default/files/pages/files/Genetics%20Of%20MD.pdf

Signs and Symptoms –  https://www.mda.org/disease/myotonic-muscular-dystrophy/signs-and-symptoms

Whatever I could say about the science, myotonic muscular dystrophy is a real disease that affects real people. From My Mother is a story about a family; it’s about relationships, it’s about the complexity in what it is to be human. Diversity, resilience and love are words used much more often than “neuromuscular disorder” or ” nasogastric feeding tube.”

Dustin, my brother affected by congenital myotonic muscular dystrophy, over the years

The most important things to know about myotonic muscular dystrophy perhaps is that it is a highly variable disease that affects people in different severities in different ways. This video made by the Myotonic Dystrophy Foundation, with real people and real effects, may say it best:


Want to support families affected by myotonic dystrophy? Consider donating to the Myotonic Dystrophy Foundation.

Want to read more about my family and myotonic muscular dystrophy? Buy From My Mother here: http://www.amazon.com/dp/1632132249/

Want to help From My Mother help families like mine? Like or share this post. Having a rare disease in the family can feel lonely, but sharing stories can make the world feel like a smaller, friendlier place for people like my mother.

Read a chapter excerpt of From My Mother on myotonicdystrophy.com  or at Quest.mda.org

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Buy your copy of From My Mother, my family’s story with myotonic muscular dystrophy here .


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