Some Mitochondrial Disorders

Disorder

Description

Chronic progressive external ophthalmoplegia (CPEO)

Progressive paralysis of the extraocular muscles usually preceded by bilateral, symmetric, progressive ptosis that begins months to years earlier

Kearns-Sayre syndrome

A multisystem variant of chronic progressive external ophthalmoplegia that also includes heart block, retinitis pigmentosa, and central nervous system degeneration

Leber hereditary optic neuropathy

Variable but often devastating bilateral vision loss that often occurs in adolescents and that is due to a point mutation in mitochondrial DNA

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome

Progressive myoclonus and seizures, dementia, ataxia, and myopathy

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome

MELAS episodes

Pearson syndrome

Sideroblastic anemia, pancreatic insufficiency, and progressive liver disease that begins in the first few months of life and is frequently fatal in infants