FANDOM


Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes

Age of Onset Edit

  • First signs in childhood (2-10 years old)
  • Delayed onset (10-40 years old)

Inheritance Pattern Edit

  • Mitochondrial

Genetic Etiology Edit

  • tRNA leucine mutations

Penetrance Edit

  • Low percentage heteroplasmy (<30%)

Features Edit

Neurology

  • seizures
  • headaches
  • stroke-like episodes with hemiparesis
  • loss of cognitive function
  • loss of motor abilities
  • dementia

Audiology

  • hearing loss

Constitutional

  • short stature
  • exercise intolerance

Ophthalmology

  • cortical visual impairment

Gastroenterology

  • vomiting

Endocrine

  • diabetes mellitus (in heteroplasmic individuals <30%)