Leigh’s disease

(redirected from Leigh’s syndrome)

Leigh’s disease

A 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.

Molecular medicine
Caused by mutations in mitochondrial DNA, SURF1 or in COX assembly factors.

Prognosis
Usually fatal by age 2.