Statements (67)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Psychologist
|
| gptkbp:advocacy |
gptkb:Cure_SMA
aim to increase awareness |
| gptkbp:associatedWith |
SMN2 gene
|
| gptkbp:causedBy |
SMN1 gene mutation
|
| gptkbp:clinicalTrials |
developed for management
available for new treatments |
| gptkbp:collaborations |
essential for progress
|
| gptkbp:commonName |
respiratory issues
scoliosis nutritional challenges |
| gptkbp:community |
important for support
|
| gptkbp:communityEvents |
held for awareness
|
| gptkbp:communityInvolvement |
encouraged for families
|
| gptkbp:communityPrograms |
local support groups
|
| gptkbp:communitySupport |
vital for families.
|
| gptkbp:demographics |
1 in 10,000 births
|
| gptkbp:diseaseResistance |
genetic testing
varies by individual |
| gptkbp:education |
IEP services in schools
|
| gptkbp:educational_programs |
information for parents
|
| gptkbp:events |
August
|
| gptkbp:family |
available for support
crucial for coping |
| gptkbp:firstIntroduced |
improves outcomes
|
| gptkbp:firstMatch |
difficulty sitting up
muscle weakness in legs poor head control |
| gptkbp:geneticDiversity |
widely available
autosomal recessive recommended for families |
| gptkbp:hasCapacity |
available through organizations
|
| gptkbp:hasService |
clinical evaluation
|
| gptkbp:healthcare |
exists for data collection
important for management |
| gptkbp:historicalResearch |
ongoing for better understanding
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMA type 2
|
| gptkbp:impact |
gptkb:onasemnogene_abeparvovec
children physical therapy social skills emotional well-being motor skills nusinersen mobility challenges emotional and financial stress improves with therapy improving with new therapies significant without treatment |
| gptkbp:is_used_in |
necessary for management
|
| gptkbp:legalEvent |
can be normal with treatment
|
| gptkbp:notableFigures |
researchers in genetics
|
| gptkbp:providesServices |
physical and occupational therapy
|
| gptkbp:research |
increasing in recent years
ongoing for new therapies |
| gptkbp:researchInterest |
between institutions
increasing in number |
| gptkbp:searchAndRescueMissions |
promising therapies
|
| gptkbp:socialMediaPresence |
growing in impact
|
| gptkbp:sportsTeam |
proximal muscles
|
| gptkbp:supports |
available for families
|
| gptkbp:symptoms |
muscle weakness
multidisciplinary approach difficulty in walking between 6 and 18 months delayed motor milestones |
| gptkbp:type |
Type 2 Spinal Muscular Atrophy
|