Other terms
Encephalomyelitis, Subacute Necrotizing,Encephalomyelitides, Subacute Necrotizing,Necrotizing Encephalomyelitides, Subacute,Necrotizing Encephalomyelitis, Subacute,Subacute Necrotizing Encephalomyelitides,Subacute Necrotizing Encephalomyelitis,Encephalopathy, Subacute Necrotizing,Encephalopathies, Subacute Necrotizing,Necrotizing Encephalopathies, Subacute,Necrotizing Encephalopathy, Subacute,Subacute Necrotizing Encephalopathies,Leigh's Disease,Disease, Leigh's,Leighs Disease,Subacute Necrotizing Encephalopathy,Encephalomyelopathy, Subacute Necrotizing,Encephalomyelopathies, Subacute Necrotizing,Necrotizing Encephalomyelopathies, Subacute,Necrotizing Encephalomyelopathy, Subacute,Subacute Necrotizing Encephalomyelopathies,Subacute Necrotizing Encephalomyelopathy,Leigh Syndrome,Encephalopathy, Subacute Necrotizing, Infantile,Subacute Necrotizing Encephalopathy, Infantile,Leigh Disease, Infantile,Subacute Necrotizing Encephalomyelitis, Infantile,Infantile Leigh Disease,Infantile Subacute Necrotizing Encephalopathy,Encephalopathy, Subacute Necrotizing, Juvenile,Subacute Necrotizing Encephalopathy, Juvenile,Leigh Disease, Juvenile,Juvenile Leigh Disease,Juvenile Subacute Necrotizing Encephalopathy
Description
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
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