Things you should know about the mitochondrial disease

about the mitochondrial disease

Mitochondria are the powerhouse of the cell. Mitochondrial disease is a type of disease that occurs due to the dysfunction of the mitochondrial respiratory chain. Mitochondria produce the energy, adenosine triphosphate (ATP) by oxidative phosphorylation. The main function of our human body is to have the energy to endure life and to support organ function requires the need of mitochondria. When the mitochondria fail to do its function, it can result in cell death and cell injury. Also, if it occurs in the entire body, then the whole organ system loses its function. The energy is required for the functioning of the heart, muscles, lungs, and when the energy is not supplied with these parts, the body gets affected in many ways. The primarily mitochondrial disease is most commonly noticed in children than in adults.

Here, we discuss mitochondrial disease, symptoms, causes, diagnosis, and treatment. Just read through the article now!

What are the symptoms of mitochondrial disease?

Here, we have listed out a few of the signs and symptoms that you may notice if you are susceptible to the diseases:

  • Inability to walk
  • Exercise intolerance
  • Seizures
  • Strokes
  • Visual impairment
  • Developmental delays
  • Cramps
  • Muscle weakness
  • Problems in the movement of the eyes
  • Drooping eyelids
  • Deafness
  • Tremors
  • Thyroid issues
  • Heart, kidney, and liver disease
  • Increased risk of infection
  • Diabetes 
  • Stunted growth

If you or any of your family have the symptoms listed above, schedule an appointment with your doctor immediately. Yes! This hereditary condition might have caused due to the errors in the mitochondria. Your doctor may suggest tests to diagnose illness and might recommend medications to reduce the symptoms. Order the medications from the best online pharmacy store in India and get them delivered at your doorstep. 

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What are the causes of mitochondrial disease?

Mitochondrial disease is a heterogeneous disorder that can occur in people of all age groups. The following are a few factors that can cause mitochondrial disease:

  • Hereditary or gene inheritance (either nucleic genes or mitochondrial genes).
  • It can be caused due to mitochondrial toxins or mitochondrial mutations.
  • Toxins, which are flushed inside our body can bind with the mitochondria in the cells and can lead to mitochondrial disease.
  • The severity of the disease depends upon the number of cells in each organ which gets affected also, these cells can reduce the production of energy which is necessary for the body and makes them less functioning. 
  • Any defects in the production of energy can cause diseases and disorders. 

Diagnosis of mitochondrial disease: 

It gets affected to the cells of the mitochondria of different organs and tissues, it’s really hard to diagnose as the patient may have different types of symptoms. There is no single test to check whether the patient is susceptible or have mitochondrial disease. It’s always good to consult the specialist to check for diagnosis of disease.

The preliminary examination includes:

  • A thorough physical examination.
  • Neurological examination may be carried out.
  • Blood and urine test.
  • Cerebral spinal fluid may be checked and in patients with mitochondrial disease, the values may be at elevated levels. 
  • Inquire about the patient’s family history to check for the risk of maternal inheritance. 

Also, based on the symptoms and the severity of the disease your specialist may suggest you a few more tests to carry out and those include:

  • MRI to check neurological symptoms.
  • Eye examination.
  • Hearing test.
  • Electrocardiogram to check the functioning of the heart.
  • Thyroid profile test to check how your gland is functioning.
  • DNA testing. 
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Types of mitochondrial disease:

There are various types of mitochondrial disease, a few of them is listed below:

  • Mitochondrial myopathy
  • Diabetes mellitus and deafness
  • Leigh syndrome
  • Leber’s hereditary optic neuropathy
  • Myoclonic epilepsy with ragged red fibres
  • Myoneurogenic gastrointestinal encephalopathy
  • MELAS syndrome


Currently, there is a very limited treatment option available. Based on the symptoms displayed, your doctor may prescribe vitamins and supplements to ease the issues. Also, if the patient is having any bipolar disorder or mood disorder, then there are certain potential treatment options available to reduce the symptom. If medicines are prescribed, then order your prescription medicines online from a genuine online medical shop at your convenience.  In rare cases, surgery or transplantation may be suggested for momentary relief. As a way of managing the disease, pharmacological therapy, counselling therapy, supportive therapy, and exercise may be suggested for managing the symptoms.   

The main role of the mitochondria is to convert food to energy. Hence, mitochondrial disease is caused when the body fails to produce energy and hence the functioning of the body is halted. Mitochondrial disease affects both the organs and the tissues so, based on the severity of the disease and worsening of the symptoms, the treatments are suggested to manage the symptoms.