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

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


Dementia

Dot A loss in intellectual ability


Migraine headaches

Myoclonus

Dot Twitching and jerking caused by sudden contraction of muscles

Peripheral neuropathy

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

Seizures


Sensorineural hearing loss

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

Stroke

Dot 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


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


Optic neuropathy


Dot 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


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

Digestive

Digestive Tract

Digestive Tract

Dot Dysmotility (pseudo-obstruction)

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


Liver


Dot Hepatopathy

Dot 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


Dot Diabetes mellitus

Muscular

Muscle

Exercise intolerance and fatigue


Fatigue


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


Myopathy


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

 

Cardiac

Heart

Cardiomyopathy


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


Conduction disorder


Dot Abnormalities in the conduction system that controls heartbeat

 

 




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Last Updated October 22, 2010 | © 2007, LHSC, London Ontario Canada