General Symptoms


 

 


Eye Muscle Brain Cardiac Digestive
Organs

Mitochondria are essential organelles. Diseases of the mitochondria affect many organs and organ systems in the body. Click on a part of the body to see the common symptoms of mitochondrial disease associated with that organ.

 

 

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  

 

Brain

 

Ataxia



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

 

Dementia



 
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A loss in intellectual ability


Migraine headaches

Myoclonus



 
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Twitching and jerking caused by sudden contraction of muscles

Peripheral neuropathy

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

Seizures

Sensorineural hearing loss

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

Stroke

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

 

Ocular

 

Eye


External ophthalmoplegia/ophthalmoperesis

 

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


Optic neuropathy

 

 
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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

 

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

Digestive

Digestive Tract

 

Digestive Tract

 

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Dysmotility (pseudo-obstruction)

 

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A group of disorders of the digestive tract caused by improper functioning of muscles that help move food down the tract
 
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This causes various symptoms of the digestive system, often caused by bacterial infections


Liver

 

 
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Hepatopathy

 

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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

 

 
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Diabetes mellitus

 

Muscular

 

Muscle

Exercise intolerance and fatigue


Fatigue

 

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


Myopathy

 

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

 

Cardiac

 

Heart

Cardiomyopathy

 

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


Conduction disorder

 

 
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Abnormalities in the conduction system that controls heartbeat