Leigh’s disease(redirected from MIM 256000)
Leigh’s diseaseA rare autosomal-recessive mitochondrial disease of neonatal onset
Clinical findings Progressive loss of motor and verbal skills, swallowing and feeding difficulties, hypotonia, hyporeflexia, weakness, ataxia, peripheral neuropathy, external ophthalmoplegia, impaired hearing and vision, seizures, convulsions.
Caused by mutations in mitochondrial DNA, SURF1 or in COX assembly factors.
Usually fatal by age 2.