Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
infants
|
| gptkbp:associated_with |
loss of motor neurons
|
| gptkbp:caused_by |
gptkb:SMN1_gene_mutation
|
| gptkbp:characteristics |
respiratory complications
hypotonia scoliosis joint contractures poor weight gain areflexia twitching of muscles weakness in limbs normal intelligence difficulty in head control may have a need for assistive devices may have a need for community resources may have a need for educational support may have a need for family counseling may have a need for genetic counseling may have a need for multidisciplinary care may have a need for nutritional support may have a need for occupational therapy may have a need for palliative care may have a need for physical therapy may have a need for psychosocial support may have a need for speech therapy may have a shortened lifespan may require feeding support may require ventilatory support no cognitive impairment normal sensory function |
| gptkbp:clinical_trial |
available for new treatments
|
| gptkbp:diagnosis |
genetic testing
clinical evaluation varies by age of onset |
| gptkbp:difficulty_levels |
most severe form of SMA
|
| gptkbp:funding |
increased in recent years
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMA Type 1
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
exist for families
|
| gptkbp:lifespan |
varies, often reduced
|
| gptkbp:prevalence |
1 in 10,000 births
|
| gptkbp:public_awareness |
conducted globally
|
| gptkbp:research |
ongoing for gene therapy
|
| gptkbp:symptoms |
muscle weakness
difficulty in breathing difficulty in swallowing usually appear before 6 months of age |
| gptkbp:treatment |
gptkb:Onasemnogene_abeparvovec
gptkb:Nusinersen gptkb:Risdiplam |
| gptkbp:type |
neuromuscular disorder
|
| gptkbp:bfsParent |
gptkb:nusinersen
|
| gptkbp:bfsLayer |
6
|