type 1 spinal muscular atrophy
GPTKB entity
Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advances |
promising for future treatments
|
| gptkbp:advocacy |
exist for awareness
|
| gptkbp:affects |
motor neurons
infants |
| gptkbp:associated_with |
hypotonia
scoliosis joint contractures |
| gptkbp:care_team |
multidisciplinary approach recommended
|
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:clinical_trial |
ongoing for new treatments
continues to evolve. for new therapies ongoing |
| gptkbp:collaborations |
between institutions
|
| gptkbp:community_impact |
significant emotional burden
|
| gptkbp:community_involvement |
increasing globally
|
| gptkbp:community_support |
important for families
|
| gptkbp:diagnosis |
genetic testing
clinical evaluation varies by individual |
| gptkbp:difficulty_levels |
most severe form of SMA
|
| gptkbp:educational_resources |
available for parents
|
| gptkbp:financial_support |
critical for coping
essential for care |
| gptkbp:first_described_by |
in the 1890s
|
| gptkbp:funding |
increasing in recent years
|
| gptkbp:genetic_studies |
recommended for families
can identify carriers in SMN1 gene |
| https://www.w3.org/2000/01/rdf-schema#label |
type 1 spinal muscular atrophy
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
available for families
|
| gptkbp:known_as |
gptkb:Werdnig-Hoffmann_disease
|
| gptkbp:lifespan |
varies widely
|
| gptkbp:muscle_atrophy |
progressive over time
|
| gptkbp:notable_production |
significant delays
|
| gptkbp:prevalence |
1 in 10,000 births
|
| gptkbp:provides_guidance_on |
developed for management
|
| gptkbp:public_awareness |
aim to educate public
|
| gptkbp:registration |
exists for data collection
|
| gptkbp:research |
ongoing for gene therapy
|
| gptkbp:research_focus |
SMN protein levels
|
| gptkbp:research_institutes |
focused on SMA
|
| gptkbp:screenings |
newborn screening recommended
|
| gptkbp:symptoms |
physical therapy
occupational therapy respiratory problems muscle weakness difficulty swallowing respiratory support before 6 months of age |
| gptkbp:treatment |
gptkb:onasemnogene_abeparvovec
gptkb:nusinersen supportive care improving with new therapies expanding with research |
| gptkbp:bfsParent |
gptkb:Werdnig-Hoffmann_disease
|
| gptkbp:bfsLayer |
6
|