familial ALS

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf gptkb:disease
genetic disorder
gptkbp:affects gptkb:nervous_system
gptkbp:affectsCellType motor neurons
gptkbp:associatedWith gptkb:C9orf72_gene_mutation
gptkb:FUS_gene_mutation
gptkb:SOD1_gene_mutation
gptkb:TARDBP_gene_mutation
gptkbp:causedBy genetic disorder
gptkbp:firstDescribed 19th century
gptkbp:frequency rare
https://www.w3.org/2000/01/rdf-schema#label familial ALS
gptkbp:ICD-10_code G12.21
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:onset adulthood
gptkbp:prevalence 5-10% of ALS cases
gptkbp:prognosis progressive
fatal
gptkbp:riskFactor family history of ALS
gptkbp:subclassOf amyotrophic lateral sclerosis
gptkbp:symptom respiratory failure
difficulty speaking
difficulty swallowing
muscle atrophy
muscle weakness
gptkbp:treatment gptkb:edaravone
gptkb:riluzole
gptkbp:bfsParent gptkb:Lou_Gehrig's_disease
gptkb:SOD1
gptkbp:bfsLayer 5