spinal muscular atrophy type 3

GPTKB entity

Predicate	Object
gptkbp:instance_of	gptkb:muscular_dystrophy
gptkbp:affects	motor neurons
gptkbp:caused_by	gptkb:SMN1_gene_mutation
gptkbp:clinical_trial	difficulty swallowing respiratory issues hypotonia twitching muscles proximal muscle weakness
gptkbp:condition	gptkb:spinal_muscular_atrophy_type_2 gptkb:spinal_muscular_atrophy_type_1 spinal muscular atrophy type 4
gptkbp:diagnosis	variable genetic testing family history clinical evaluation neurological examination
gptkbp:epidemiology	1 in 10,000 births more common in certain populations
gptkbp:genetic_studies	recommended for families SMN2 gene copy number SMN1 gene analysis
https://www.w3.org/2000/01/rdf-schema#label	spinal muscular atrophy type 3
gptkbp:inherits_from	autosomal recessive
gptkbp:is_affected_by	gptkb:children adults
gptkbp:is_involved_in	gptkb:Cure_SMA gptkb:SMA_Foundation SMA Support UK
gptkbp:lifespan	normal to near normal
gptkbp:premiered_on	childhood
gptkbp:public_awareness	advocacy for research funding important for early diagnosis
gptkbp:research	gptkb:gene_therapy clinical trials
gptkbp:research_institutes	gptkb:Cure_SMA gptkb:MDA gptkb:NIH
gptkbp:symptoms	fatigue difficulty walking muscle weakness tremors muscle wasting scoliosis joint contractures
gptkbp:treatment	gptkb:risdiplam gptkb:Zolgensma gptkb:nusinersen medications physical therapy supportive care
gptkbp:bfsParent	gptkb:Nusinersen
gptkbp:bfsLayer	5