spinal muscular atrophy type 3
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
motor neurons
|
| gptkbp:alsoKnownAs |
Kugelberg-Welander disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
spinal muscular atrophy type 3
|
| gptkbp:ICD-10_code |
G12.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
normal or near normal
|
| gptkbp:muscleInvolvement |
proximal muscles
|
| gptkbp:mutationAssociatedWith |
gptkb:SMN1_gene
|
| gptkbp:namedAfter |
Erik Kugelberg
Lisa Welander |
| gptkbp:OMIM |
253400
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slow
|
| gptkbp:symptom |
tremor
muscle weakness difficulty walking frequent falls |
| gptkbp:treatment |
gptkb:nusinersen
gptkb:risdiplam occupational therapy physical therapy gene therapy |
| gptkbp:bfsParent |
gptkb:SMN1
|
| gptkbp:bfsLayer |
6
|