Mitochondrial Disease

The following is from : www.mitoaction.org with their permission.

So what is Mitochondrial Disease?

Mitochondrial Disease (“Mito”) is the body’s inability to produce the necessary amount of energy to maintain the day-to-day functions of the body.  Mitochondria are responsible for 90 percent of your body’s energy level. When mitochondria don’t function properly symptoms can be mild to severe.

Why are mitochondria so important?

The mitochondria act as the “powerhouse” of the cell to produce energy for the body to live. Mitochondrial disease is an energy metabolism disorder that affects babies, children, and adults of all ages, races, and gender. Experts agree that at least 1 in 4,000 children and adults have mitochondrial disease. However, "Mito" is often under diagnosed for lack of awareness and understanding of this disease.

Symptoms of “Mito” vary in type and severity, and may include profound muscle weakness and fatigue, seizures, gastrointestinal dysfunction, developmental delay, vision and hearing loss, and unexplained organ failure. Today there is no cure for mitochondrial disease. Treatment is focused on energy conservation and vitamin therapy.

What are some other symptoms?

Including but not limited to:

• Developmental delay
• Neurological problems
• Muscle weakness
• Poor growth
• Heart, Liver and Kidney Disease
• Extreme susceptibility to infection

What causes “Mito”?

For many patients, mitochondrial disease is a genetically inherited condition. An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.
It is important to determine which type of mitochondrial disease inheritance is present, in order to predict the risk of recurrence for future children. The types of mitochondrial disease inheritance include:

• DNA inheritance. Also called autosomal inheritance.
• If this gene trait is recessive (one gene from each parent), often no other family members appear to be affected. There is a 25 percent chance of the trait occurring in other siblings.
• If this gene trait is dominant (a gene from either parent), the disease often occurs in other family members. There is a 50 percent chance of the trait occurring in other siblings.

How is Mitochondrial Disease Diagnosed?

• Diagnosis can be made by one of the few physicians that specialize in mitochondrial disease.
• Diagnosis can be made by blood DNA testing and/or muscle biopsy but neither of these tests is completely reliable.

How is Mitochondrial Disease Treated?

Treatment consists of:

• Vitamin therapy and conserving energy.
• The goal is to improve symptoms and slow progression of the disease.
• Conserve energy
• Pace activities
• Maintain an ambient environmental temperature
• Avoid exposure to illness
• Ensure adequate nutrition and hydration

What are the Challenges of living with Mitochondrial Disease?

Affects multiple organs, affects multiple family members, affects multiple generations.
There is a significant lack of awareness and understanding of the disease.
Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
Mitochondrial disease is often an “invisible disease." It is difficult to diagnose.
Good day: Patients appear healthy. They have more energy and appear rested.
Bad day: Patients can appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports, and disability services.
Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
An individual can become symptomatic at any time in life despite the fact that it is inherited.

Mitochondrial dysfunction has been related to other diseases including autism, diabetes, Alzheimer's and Parkinson's disease and aging.