ALS (Lou Gehrig's disease)

GPTKB entity

Statements (53)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
gptkbp:affects lower motor neurons
motor neurons
upper motor neurons
gptkbp:alsoKnownAs gptkb:Amyotrophic_lateral_sclerosis
gptkb:Lou_Gehrig's_disease
gptkbp:averageOnsetAge 55
gptkbp:awarenessEvent gptkb:ALS_Ice_Bucket_Challenge
gptkbp:casualties yes
gptkbp:category motor neuron disease
gptkbp:cause difficulty breathing
difficulty speaking
difficulty swallowing
muscle atrophy
muscle weakness
gptkbp:causedBy C9orf72 gene mutation (in some cases)
FUS gene mutation (in some cases)
SOD1 gene mutation (in some cases)
TARDBP gene mutation (in some cases)
gptkbp:compatibleWith sensory nerves
cognitive function (in most cases)
gptkbp:diagnosedBy MRI
clinical examination
electromyography
nerve conduction study
gptkbp:firstDescribed gptkb:Jean-Martin_Charcot
gptkbp:hereditary 5-10% cases
https://www.w3.org/2000/01/rdf-schema#label ALS (Lou Gehrig's disease)
gptkbp:ICD-10_code G12.2
gptkbp:incidence 2 per 100,000 per year
gptkbp:medianSurvival 2-5 years
gptkbp:MeSH_ID D000690
gptkbp:namedAfter gptkb:Lou_Gehrig
gptkbp:OMIM 105400
gptkbp:onset adult
gptkbp:prevalence 5 per 100,000
gptkbp:prognosis poor
gptkbp:progression progressive
gptkbp:riskFactor age
genetics
male sex
gptkbp:sporadic 90-95% cases
gptkbp:studiedBy gptkb:ALS_Association
gptkbp:symptom paralysis
cramps
muscle twitching
spasticity
gptkbp:treatment gptkb:edaravone
gptkb:riluzole
supportive care
gptkbp:bfsParent gptkb:Gene_Brito
gptkb:Matthew_Saad_Muhammad
gptkbp:bfsLayer 7