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Diseases » Kearns-Sayre Syndrome » Glossary
 

Glossary for Kearns-Sayre Syndrome

  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Brain symptoms: Symptoms affecting the brain
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Head Conditions: Conditions that affect the head
  • Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Heart symptoms: Symptoms affecting the heart
  • 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.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Neuromuscular conditions: Conditions affecting the nerve-muscle systems.
  • Ophthalmoplegia: A disorder that is characterised by the paralysis of the eye muscles
  • Progressive external ophthalmoplegia: A rare genetic disorder characterized by progressive paralysis of the eye muscles as well as occasional skeletal muscle involvement.
  • Retina symptoms: Symptoms affecting the retina in the back of the eye
  • 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.
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.

 

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