Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Psychologist
|
| gptkbp:ageLimit |
between 18 months and 3 years
|
| gptkbp:associatedWith |
gptkb:SMA_type_2
gptkb:SMA_type_1 fatigue pain respiratory issues psychosocial issues scoliosis joint deformities nutrition challenges |
| gptkbp:causedBy |
SMN1 gene mutation
|
| gptkbp:characterDevelopment |
slow
|
| gptkbp:colors |
teal
|
| gptkbp:demographics |
1 in 10000
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:events |
August
|
| gptkbp:firstDescribedBy |
by_Dr._Werdnig_and_Dr._Hoffmann
|
| gptkbp:geneticDiversity |
autosomal recessive
|
| gptkbp:hasService |
muscle biopsy
electromyography motor milestones |
| https://www.w3.org/2000/01/rdf-schema#label |
SMA type 3
|
| gptkbp:impact |
gene therapy
physical therapy supportive care social interactions muscle strength mobility issues independence challenges |
| gptkbp:inheritsFrom |
childhood
|
| gptkbp:is_used_in |
rehabilitation services
nutritional support psychological support multidisciplinary approach assistive devices |
| gptkbp:legalEvent |
normal or near normal
|
| gptkbp:previouslyKnownAs |
gptkb:Kugelberg-Welander_disease
|
| gptkbp:researchFocus |
clinical trials
gene therapy advancements SMN protein levels |
| gptkbp:sportsTeam |
proximal muscles
limb muscles pelvic_girdle_muscles |
| gptkbp:supports |
gptkb:Cure_SMA
gptkb:SMA_Europe gptkb:SMA_Foundation |
| gptkbp:symptoms |
difficulty walking
muscle weakness |