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Mitochondrial Disease - Life Expectancy, Symptoms, Treatment, Causes

Updated on January 6, 2014

What is Mitochondrial Disease?

This is a medical condition that happens because of mitochondria that is damaged and fails to perform correctly. It is like your body has suffered a “black out.” Mitochondria are found in all cells in your body except for your red blood cells and are rod-shaped structures. Mitochondria are protected by the inner and outer membranes of the cell. They have several proteins and enzymes that your body requires for the processing of fats and carbohydrates along with helping to produce energy. Mitochondria are often referred to as the “powerhouse of the cells”. The diseases that are caused because of damage to the Mitochondria are called Mitochondrial Myopathies, which consist of neuromuscular diseases. Some of these neuromuscular diseases can include Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes, and Kearns-Sayre syndrome.

This disease will primarily affect your heart, muscle, and brain in varying levels of severity. When a person has a Mitochondrial Disease it can lead to having serious health problems because this disease can take on many different forms. Approximately one in three to four thousand people in the United States are suffering from Mitochondrial Disease. By the age of ten one in four thousand children will develop Mitochondrial disease. In infants they may suffer from Mitochondrial DNA Depletion Syndrome (MDS). In children and adults they may suffer from Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS). Infants may also develop Pearson Syndrome.

Symptoms

What symptoms that a person who has Mitochondrial Disease will have depend on which cells of your body are affected. Some of the symptoms a person might have can include:

  • Growth that is poor, stunted growth
  • Muscle weakness, loss of muscle coordination
  • Hearing and/or visual problems such as blindness, droopy eyelids, deafness, limited movement of the eyes, cataracts
  • Learning disabilities, developmental delays
  • Mental retardation
  • Kidney, heart or liver disease and can include heart failure
  • Severe constipation, gastrointestinal disorders
  • Respiratory disorders
  • Diabetes
  • Increased risk of infection
  • Seizures, neurological problems
  • Thyroid dysfunction
  • Dementia
  • Exercise intolerance
  • Nausea, vomiting
  • Breathlessness
  • Gastrointestinal disorders

When a person with Mitochondrial Disease has muscle deterioration it can lead to them having difficulties in swallowing and speaking.

Symptoms of Mitochondrial DNA Depletion Syndrome:

  • Brain abnormalities
  • Reaching developmental milestones can be delayed
  • Feeding difficulties
  • Dysfunction in your liver
  • Weakness in your muscles

Symptoms of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes:

  • Strokes
  • Hearing loss
  • Diabetes
  • migraines
  • Muscle fatigue which is a common symptom that is seen in adults with this type of Mitochondrial Disease.

The symptoms that are seen in children will usually become more prominent before they reach twenty years of age.

Symptoms of Pearson Syndrome

  • Pancreas dysfunction
  • Anemia

When children with Mitochondrial Disease are in school they seem to work in “spurts” and then start finding it difficult to concentrate, even lethargic. These periods of fatigue happen because of the total exhaustion from deep within their cellular levels.

Causes

Basically Mitochondrial Diseases are caused by changes, or mutations, in your genes. It happens in your cell’s blueprints for making proteins. This disease is inherited but it will often affect members in the same family in different ways. In some cases of Mitochondrial Disease it appears to be genetically transmitted and can appear when the child is born or early in childhood. When it appears in adulthood the cause is not always understood fully. In some people Mitochondrial Disease will develop over time.

Treatment

At this time Mitochondrial Disease has no known cure but there are various medications and maybe even physical therapy that can be used to treat the symptoms. Your physician may also put you on vitamin therapies along with antioxidants that may help improve your energy levels, reduce your fatigue, and even help to stop the spread of free radicals. Your physician may even suggest dietary changes. The treatment that is used will vary according to the severity of the symptoms and the type of Mitochondrial Disease. The earlier it is caught the more effective the treatment. Getting treatment for Mitochondrial Disease can help to stop the spread of this disease in your body. Treatment may also help to delay the onset of Mitochondrial Disease.

Vitamins that your physician may suggest taking

  • Lipoic acids
  • Vitamin E
  • Vitamin C
  • Vitamin K
  • Riboflavin
  • Idebenone
  • Carnitine
  • Coenzyme Q

Dietary changes

Make sure that you are drinking water throughout the day to make sure that your body’s muscles and cells are hydrated properly. Make sure that you are eating a well balanced diet that includes vegetables, fruits, and whole grains. The whole grains you eat will help to provide your cells and muscles with the energy you need. Eating vegetables and fruits contain natural antioxidant. You should try to avoid foods that are processed and are high in sugar because these will cause a dramatic peak and dip in your energy and blood sugar levels.

Life Expectancy

The prognosis for people who have Mitochondrial Disease is greatly influenced by the degree of involvement of various organs and they type of Mitochondrial Disease the person has. On average most people with this disease die by the age of fifty. Because Mitochondrial Disease is responsible for progressive weakness this disease can lead to death eventually.

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