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Mitochondrial Disease – A Rare Ailment

by Vinay M
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Mitochondrial Disease

Mitochondrial diseases are the outcome of failures of certain specific compartments present in most of the human cells (other than red blood cells) called mitochondria.

Mitochondria usually generates 90% of the energy necessary for supporting various organs & living an energetic life. When they become weak and can’t generate the expected amount of energy, then lesser amount of energy produced in the cell can lead to cell injury as well as cell death too. However when this activity takes place in our whole body then our organ system starts to lose out.

Organs like lungs, brain, heart & muscles usually need most of the energy, so these organs become affected the most. Because of its different impacts on different organs mitochondrial ailment is not a very easy thing to diagnose.

Though children are the primary victims of this ailment, however adult outbreak is not very uncommon.

Causes of Mitochondrial Disease:

Mitochondria

Image by: NICHD

It has been widely accepted that such a situation is caused as a result of alteration or genetics or mutations of the DNA present in mitochondria. When this short of incident happens, the patient can genetically transmit this disease to the next generation.

Such a situation is believed to be autosomal recessive (it can inherent from mother mainly indicate as the carrier). Contrary to common knowledge a particular mutation of the mitochondria is an unknown quantity.This mutation can be engraved into the nuclear DNA of our cell that enables it to exert some control over the function carried out by mitochondria.

Symptoms:

Mitochondria Symptoms

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Depending on which cell of your body is affected, symptoms could be different & its severity too can vary. If more than one patients belongs to the same family then they can develop different symptoms. Few signs are as follows:

  • Hearing or even vision problems
  • Exercise intolerance, muscle pain, weak muscles
  • Ailments in kidney or in liver or in heart
  • Inefficient growth
  • Features similar to autism
  • Developmental setback, learning problems etc.
  • Diabetes
  • Problems in respiratory system
  • Dementia
  • Thyroid disorder
  • Gastrointestinal ailments, cramping, diarrhea, problems in swallowing, unusual vomiting etc.
  • Having problems in movements
  • Lactic acidosis
  • Enhance the chances of infection
  • Neurological ailments like, stroke, migraines, seizure etc.

Detection of Mitochondrial Disease:

Although the perfect treatment is still unknown, however research is still on to get a break through as early as possible. Some of the ways of treating this as follows:

  • Muscle biopsies
  • Laboratory test
  • MRI
  • CT scan in brain

Clinical Data Collection as Well as Physical Tests or Examination:

For removing the other possible causes, metabolic screening tests are highly recommended. One sure shot way of negating other causes of this disease is to do a metabolic screening test. It can effectively rule out other factors.

Treatment Options Available:

Treatment

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Though there is no particular treatments available, nevertheless, doctors sometimes prescribe vitamin like C, E, riboflavin & thiamine, to lower the difficulties of their patients.

Lactic acid buildup is another reason behind this ailment, so researchers are trying to identify a path to block such build ups.

Diet for those with mitochondrial disease includes limiting the intake of carbohydrates. By this, one can reduce the workload of the mitochondria.

General Prognosis:

The general prognosis for this disease differ individually. Sometimes because of late treatment prognosis could become critical for the patient. When the major systems of the body get destroyed, it can even lead to death sometimes.

Life Expectancy:

This condition is very much fatal disorder that it causes for the affected to be crippled, in terms of doing the activities of daily living.Life expectancy for the people with mitochondrial ailment is quite hostile. Sometimes it depends on the process to, especially where the victim is a kid. In some cases, where treatment has started after birth, life expectancy is almost a year. However among adults, there is a higher chance of greater life expectancy. Nevertheless, people can be victim of such ailment in their regular life too.

Featured Image by: Wikimedia

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