subacute necrotizing encephalomyelopathy

URI: https://gptkb.org/entity/subacute_necrotizing_encephalomyelopathy
GPTKB entity
Statements (39)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:affects gptkb:nervous_system
gptkb:spinal_cord
brain
gptkbp:alsoKnownAs gptkb:Leigh_syndrome
gptkbp:associatedWith gptkb:NDUFS1
gptkb:MT-ATP6
gptkb:PDHA1
gptkb:SURF1
gptkbp:category neurodegenerative disease
mitochondrial disease
gptkbp:cause mutations in mitochondrial DNA
mutations in nuclear DNA
mitochondrial dysfunction
gptkbp:diagnosedBy MRI
genetic testing
muscle biopsy
gptkbp:firstDescribed 1951
gptkbp:hasOrphanetID gptkb:ORPHA:166
https://www.w3.org/2000/01/rdf-schema#label subacute necrotizing encephalomyelopathy
gptkbp:ICD-10_code gptkb:G31.82
gptkbp:inheritance X-linked recessive
autosomal recessive
mitochondrial
gptkbp:namedAfter gptkb:Archibald_Denis_Leigh
gptkbp:OMIM 256000
gptkbp:onset childhood
infancy
gptkbp:prevalence rare
gptkbp:prognosis poor
gptkbp:symptom respiratory failure
hypotonia
seizures
ataxia
psychomotor regression
gptkbp:treatment supportive care
vitamin supplementation
gptkbp:bfsParent gptkb:Leigh_syndrome
gptkbp:bfsLayer 7