MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes

Age of Onset

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

Inheritance Pattern

 * Mitochondrial

Genetic Etiology

 * tRNA leucine mutations

Penetrance

 * Low percentage heteroplasmy (<30%)

Features
Neurology Audiology Constitutional Ophthalmology Gastroenterology Endocrine
 * seizures
 * headaches
 * stroke-like episodes with hemiparesis
 * loss of cognitive function
 * loss of motor abilities
 * dementia
 * hearing loss
 * short stature
 * exercise intolerance
 * cortical visual impairment
 * vomiting
 * diabetes mellitus (in heteroplasmic individuals <30%)