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Glossary for Mitochondrial diseases, clinically indefinite

  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Brain symptoms: Symptoms affecting the brain
  • Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neuropathy: Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness.
  • Retinitis Pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Weakness: Symptoms causing weakness of the body

 

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