Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Psychologist
|
| gptkbp:advertising |
important
|
| gptkbp:advocacy |
ongoing
|
| gptkbp:ageLimit |
early childhood
infancy |
| gptkbp:associatedWith |
gptkb:SMA_type_2
gptkb:SMA_type_3 |
| gptkbp:causedBy |
genetic mutations
|
| gptkbp:clinicalTrials |
difficulty walking
difficulty swallowing respiratory issues progressive weakness twitching muscles |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
genetic testing
clinical examination |
| gptkbp:geneticDiversity |
SMN1 gene mutation
SMN2 gene copy number |
| gptkbp:hasService |
family history
clinical features |
| https://www.w3.org/2000/01/rdf-schema#label |
Kugelberg-Welander disease
|
| gptkbp:impact |
independence
mobility quality of life motor neurons surgery medications physical therapy supportive care occupational therapy assistive devices |
| gptkbp:inheritsFrom |
childhood
|
| gptkbp:introduced |
Kugelberg_and_Welander
|
| gptkbp:legalEvent |
varies
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:relatedPatent |
muscular dystrophy
neuromuscular disorders |
| gptkbp:research |
ongoing
recommended |
| gptkbp:researchFocus |
clinical trials
gene therapy symptom management |
| gptkbp:supports |
available
|
| gptkbp:symptoms |
muscle weakness
muscle atrophy hypotonia |