Monday, September 21, 2009

International Mitochondrial Disease Awareness Week

September 20-26 is Mitochondrial Disease Awareness week.

I know I have shared plenty about Mitochondrial Disease before but I recently put together some information for those that don't know much about mitochondrial diseases and I thought I would share that. Some of the information comes from and

What is Mitochondrial Disease?

Mitochondrial diseases occur when the mitochondria, the "powerhouse" of the cell which provides more than 90% of the energy the cell needs to function, fails to produce enough energy a cell needs to function. When cells do not have enough energy to function, they die. When enough cells in any organ system die that organ system fails.


Symptoms vary from person to person depending on which organs are affected and the percentage of faulty mitochondria within that organ. Most commonly affected are the brain, muscles and heart because they require a lot of energy to function but because most other organ systems are made up of muscles and nerves any organ is susceptible to the disease.

More common symptoms are:

-muscle weakness

- fatigue

- seizures

-gastrointestinal dysfunction

- developmental delay

- vision and hearing loss

-autism, autistic-like behaviors

-increased risk of infection

-autonomic dysfunction(click here for more information)

- organ failure


* Mitochondrial Disease presents differently for every individual

* 1 in 4,000 children will develop a mitochondrial disease by age 10

*Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die, there is organ failure.

*The World Health Organization(WHO) calculates that neuro-degenerative diseases, also associated with mitochondrial dysfunction, will become the world's 2nd leading cause of death by the year 2040.

What causes Mitochondrial Disease?

For many people Mitochondrial Disease is an inherited condition that runs in their family. Some acquire symptoms due to other factors, including mitochondrial toxins.

What are the challenges of living with a Mitochondrial Disease?

  • Lack of awareness and understanding
  • Mitochondrial disease is often and "invisible disease"

*Good day-person looks healthy. They have more energy and look rested.

* Bad day- person appears tired of ill. They are obviously fatigued.

  • Mitochondrial disease is unpredictable. Day to day, hour to hour, the person can develop symptoms and their stability can be threatened.

What is the prognosis or outlook?

Once a person is diagnosed, proper testing and treatment are received to relieve symptoms and try to delay the progression of the disease. There is no way to predict the course of Mitochondrial Diseases. They might progress quickly or slowly, even over decades. The disease might also appear stable for years.

Today there is no cure for Mitochondrial Disease; treatment is focused on energy conservation and vitamin therapy. The goal is to pace activities, avoid exposure to illness, ensure adequate nutrition and hydration, and to maintain and ideal, environmental temperature.


Thanks for taking the time to read this. I know quite a few that have read my blog for a while likely know this information but for those that don't I hope you learned something new because awareness is key for families affected by this disease!


Jess(ica) said...

thanks for sharing additional information. It definitely helps me have a better understanding of what Mitochondrial disease is.

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