Subacute necrotising encephalomyelopathy

Introduction: Subacute necrotising encephalomyelopathy

Description of Subacute necrotising encephalomyelopathy

Subacute necrotising encephalomyelopathy: 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).
Source: Diseases Database

Subacute necrotising encephalomyelopathy: Related Topics

These medical condition or symptom topics may be relevant to medical information for Subacute necrotising encephalomyelopathy:

• Subacute
• Encephalomyelopathy
• Group
• Metabolic
• Metabolic symptoms (391 causes)
• Metabolic disease (50 causes)
• Metabolic disorder (50 causes)
• Metabolic syndrome (50 causes)
• Infancy
• Psychomotor

Terms associated with Subacute necrotising encephalomyelopathy:

Terms Similar to Subacute necrotising encephalomyelopathy:

• Leigh syndrome

Source: Diseases Database

External links related to: Subacute necrotising encephalomyelopathy

• OMIM - ATP SYNTHASE 6; MTATP6
• Leigh disease - MedPix™ Medical Image Database and Teaching Files
• Leigh disease - MedPix™ Medical Image Database and Teaching Files
• OMIM - LEIGH SYNDROME; LS

Source: Diseases Database

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