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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Leigh's diseaseSubacute necrotizing encephalopathy A mitochondrial disease of infants Clinical Progressive loss of motor and verbal skills Prognosis Usually fatal by age 2. See Mitochondrial disease.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.