General Symptoms

 

Mitochondrial diseases are extremely rare conditions with prevalence being approximately 12 in 100 000 people. Mitochondria are organelles found in nearly all body cells. Therefore disorders of mitochondria are typically multisystemic, meaning they affect many organs and areas of the body.
 

Mitochondria are of course the energy powerhouses of the cell. A disease of these organelles disrupts their ability to make energy for the cell. This lack of energy to areas that demand it makes cells and eventually organs dysfunctional. This energy deficit can be considered the root cause of the symptoms observed in mitochondrial disease.

 

Neurological  

 

 

Ataxia

  Meaning “without coordination”
  Uncoordinated movements of the arms and legs

 

Dementia

  A loss in intellectual ability

Migraine headaches

Myoclonus

  Twitching and jerking caused by sudden contraction of muscles

Peripheral neuropathy

  Damage or disease to nerves of the peripheral nervous system
  Numbness or tingling sensations in the extremities

Seizures

Sensorineural hearing loss

  Disease or damage of the nerve in the inner ear
  May cause complete deafness in one or both ears

Stroke

  Lack of oxygenated blood to the brain which may lead to paralysis, speech and vision problems, pain and other symptoms

 

Ocular

 

External ophthalmoplegia/ophthalmoperesis

 

  Paralysis/weakness of muscles in and around the eyes causing restricted movement of the eyes and appearance of drooping eyelids (ptosis)

Optic neuropathy

 

  Damage to the optic nerve which connects photoreceptor cells to the brain, causing partial or complete blindness

Retinitis Pigmentosa – a group of diseases of the eye characterized by

 

  Swelling of cells in the retina
  Vision loss in the night
  Peripheral vision loss
  Central vision loss

Digestive

Digestive Tract

 

 

Dysmotility (pseudo-obstruction)

 

A group of disorders of the digestive tract caused by improper functioning of muscles that help move food down the tract
 

This causes various symptoms of the digestive system, often caused by bacterial infections

Liver

 

  Hepatopathy

 

Various forms of liver disease including jaundice, which causes a yellowish discolouration of the skin as a result of an excess chemical called bilirubin

Pancreas

 

  Diabetes mellitus

 

Muscular

 

Exercise intolerance and fatigue

Fatigue

 

  Skeletal muscles that move our bodies require a lot of energy
  An energy deficit caused by a mitochondrial causes extreme weakness and constant fatigue
  Extreme muscle weakness also means physical activity becomes nearly impossible to tolerate

Myopathy

 

  A disease of muscle fibre, caused by insufficient energy supply to muscle cells

 

Cardiac

 

Cardiomyopathy

 

  A disease of the heart muscle which may lead to heart failure

Conduction disorder

 

  Abnormalities in the conduction system that controls heartbeat