spinal muscular atrophy type 4
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
lower motor neurons
|
| gptkbp:differentialDiagnosis |
amyotrophic lateral sclerosis
|
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
spinal muscular atrophy type 4
|
| gptkbp:ICD-10_code |
G12.9
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SMN1_gene
|
| gptkbp:OMIM |
271150
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slow
|
| gptkbp:subclassOf |
spinal muscular atrophy
|
| gptkbp:symptom |
muscle atrophy
muscle weakness difficulty walking |
| gptkbp:treatment |
gptkb:nusinersen
gptkb:risdiplam supportive care physical therapy |
| gptkbp:bfsParent |
gptkb:SMN1_gene
|
| gptkbp:bfsLayer |
7
|