FRIDAY FACTS! Mitochondrial Myopathy

Welcome to Friday Facts! here on the Knowledge Safari blog. Each Friday we aim to shine a spotlight on a particular segment of special needs. In order to raise awareness and understanding. This week we are highlighting Mitochondrial Myopathy (MITO).

I am sure that you have heard the name Mattie Stepanek. Mattie had Dysautonomic Mitochondrial Myopathy, he lost his life before turning 14. When I thought of what disease Mattie had, I thought of Muscular Dystrophy in general. I have learned that while yes, MITO does fall under the Muscular Dystrophy umbrella, it is worthwhile to note the specific information about this disease.

Mattie was and still is an inspiration. You might be familiar with some of his poetry, if you are...break out a book and read it again! If you aren't here is a listing of all of his books. Whenever I saw Mattie interviewed, I often wondered how a kid facing such diffuculties in his life could have such a positive attitude. Some of the answer has to lie with his mom Jeni Stepanek. She is a fine example of parenting a child well. Jeni found out that she had the same disease when Mattie turned four, and lost three other children to the disease as well. I've never met Jeni, but she sure seems like a fantastic example of grace under pressure. The pressures of caring for her children with special needs and the pressures of her own health.

Jeni has also written a book, which you can learn more about here, called Messenger: The Legacy of Mattie J.T. Stepanek and Heartsongs.



The following is information is taken from the Muscular Dystrophy Association Website.
What are Mitochondrial Diseases?

Just as some diseases are named for the part of the body they affect (like heart disease), mitochondrial diseases are so-named because they affect a specific part of the cells in the body. Specifically, mitochondrial diseases affect the mitochondria — tiny energy factories found inside almost all our cells.

Mitochondria are responsible for producing most of the energy that’s needed for our cells to function. In fact, they provide such an important source of energy that a typical human cell contains hundreds of them. A mitochondrial disease can shut down some or all the mitochondria, cutting off this essential energy supply.

Nearly all our cells rely on mitochondria for a steady energy supply, so a mitochondrial disease can be a multisystem disorder affecting more than one type of cell, tissue or organ. The exact symptoms aren’t the same for everyone, because a person with mitochondrial disease can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body.

Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems — such as muscle weakness, exercise intolerance, hearing loss, trouble with balance and coordination, seizures and learning deficits — are common features of mitochondrial disease. Other frequent complications include impaired vision, heart defects, diabetes and stunted growth. Usually, a person with a mitochondrial disease has two or more of these conditions, some of which occur together so regularly that they’re grouped into syndromes.

A mitochondrial disease that causes prominent muscular problems is called a mitochondrial myopathy (myo means muscle, and pathos means disease), while a mitochondrial disease that causes both prominent muscular and neurological problems is called a mitochondrial encephalomyopathy (encephalo refers to the brain).

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Please share with us about this topic in the comments section and/or check out the GROUP that we have started in the COMMUNITY section of Knowledge Safari, titled Muscular Dystrophy to continue the coversation.