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
- 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%)