Mitochondrial disease


Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:


Taxotomy

Subclassifications Epidemiology Clinical features
Alpers-Huttenlocher syndrome None Bilateral ptosis
Seizure
Epilepsy
Liver failure
Developmental regression
Neurogenic Weakness, Ataxia and Retinitis Pigmentosa None Proximal muscle weakness
Peripheral neuropathy
Retinitis pigmentosa
Leber hereditary optic neuropathy None Optic neuropathy
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke like episodes None
Leigh syndrome None