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Glossary for Wolfram Syndrome, Mitochondrial form

  • Autonomic dysfunction: disease or malfunction of the autonomic nervous system.
  • Blindness: The inability to see out of the eyes
  • Deafness: Inability to hear sounds.
  • Diabetes-like conditions: Medical conditions that appear to be similar to diabetes.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Endocrine system conditions: Medical conditions affecting the endocrine systems, such as the related hormones or glands.
  • 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.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • 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.
  • Nystagmus: Involuntary jerky eye movements
  • Optic atrophy: Dysfunction of the optic nerve which results in impaired vision. The disorder may be congenital or acquired. The rate and degree of atrophy is greatly variable depending on the cause.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.

 

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