familial amyotrophic lateral sclerosis

GPTKB entity

Statements (46)
Predicate Object
gptkbp:instanceOf gptkb:disease
neurodegenerative disease
genetic disorder
gptkbp:affects gptkb:nervous_system
motor neurons
gptkbp:alsoKnownAs gptkb:familial_ALS
fALS
gptkbp:associatedWith gptkb:VCP
gptkb:ANG
gptkb:C9orf72
gptkb:FUS
gptkb:SOD1
gptkb:TARDBP
gptkb:UBQLN2
gptkb:ALS2
gptkb:OPTN
gptkb:SETX
gptkbp:complication gptkb:pneumonia
malnutrition
respiratory failure
paralysis
gptkbp:field genetics
neurology
gptkbp:firstDescribed 19th century
https://www.w3.org/2000/01/rdf-schema#label familial amyotrophic lateral sclerosis
gptkbp:ICD-10_code G12.2
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:MeSH_ID D000690
gptkbp:namedAfter amyotrophic lateral sclerosis
gptkbp:OMIM 105400
gptkbp:onset adulthood
gptkbp:prevalence 5-10% of ALS cases
gptkbp:prognosis progressive
fatal
gptkbp:relatedTo sporadic amyotrophic lateral sclerosis
gptkbp:riskFactor family history of ALS
gptkbp:symptom respiratory failure
difficulty speaking
difficulty swallowing
muscle atrophy
muscle weakness
gptkbp:treatment gptkb:edaravone
gptkb:riluzole
gptkbp:bfsParent gptkb:ALS1
gptkbp:bfsLayer 6