Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advocacy |
important for awareness
important for research funding important for support services |
| gptkbp:affects |
infants
|
| gptkbp:associated_with |
loss of motor neurons
|
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:clinical_trial |
muscle atrophy
available for new treatments twitching of muscles reflexes may be diminished |
| gptkbp:clinical_use |
requires multidisciplinary approach
involves neurologists involves nutritionists involves pediatricians involves physical therapists involves respiratory therapists involves social workers |
| gptkbp:community_support |
online resources available
available for affected families local support groups exist |
| gptkbp:diagnosis |
genetic testing
varies by age of onset clinical evaluation and genetic testing |
| gptkbp:difficulty_levels |
most severe form of SMA
|
| gptkbp:early_signs |
hypotonia
poor head control weak cry difficulty in feeding |
| gptkbp:first_described_by |
in the 1890s
|
| gptkbp:genetic_studies |
can confirm diagnosis
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMA type 1
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
available for families
|
| gptkbp:known_as |
gptkb:Werdnig-Hoffmann_disease
|
| gptkbp:lifespan |
varies, often less than 2 years without treatment
|
| gptkbp:muscle_groups_affected |
proximal muscles
bulbar muscles respiratory muscles |
| gptkbp:newborn_screening |
can detect SMA
|
| gptkbp:notable_production |
significant motor delays
|
| gptkbp:patient_population |
gptkb:children
newborns |
| gptkbp:prevalence |
1 in 10,000 births
|
| gptkbp:research |
ongoing for gene therapy
|
| gptkbp:research_focus |
improving quality of life
developing new therapies |
| gptkbp:support |
may require nutritional support
may require occupational therapy may require physical therapy may require respiratory support |
| gptkbp:symptoms |
muscle weakness
difficulty in breathing difficulty in swallowing |
| gptkbp:treatment |
gptkb:Onasemnogene_abeparvovec
gptkb:Nusinersen gptkb:Risdiplam |
| gptkbp:type |
gptkb:Type_1_SMA
|
| gptkbp:bfsParent |
gptkb:Zolgensma
gptkb:muscular_dystrophy |
| gptkbp:bfsLayer |
5
|