Statements (55)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
gptkb:children
motor neurons infants |
| gptkbp:associated_with |
gptkb:SMN1_gene
gptkb:SMN2_gene scoliosis joint contractures muscle fasciculations |
| gptkbp:can_lead_to |
respiratory failure
death in early childhood |
| gptkbp:caused_by |
genetic mutations
|
| gptkbp:characterized_by |
muscle atrophy
rapid progression normal cognitive function weakness in proximal muscles |
| gptkbp:clinical_trial |
available
|
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation neurological examination varies by severity |
| gptkbp:difficulty_levels |
most severe form of SMA
|
| gptkbp:first_described_by |
gptkb:Guido_Werdnig
Julius Hoffmann |
| https://www.w3.org/2000/01/rdf-schema#label |
Werdnig-Hoffmann disease
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_common_in |
adults
newborns infants under 6 months |
| gptkbp:is_managed_by |
palliative care
rehabilitation services family support services multidisciplinary care educational support services |
| gptkbp:known_as |
gptkb:type_1_spinal_muscular_atrophy
|
| gptkbp:lifespan |
varies
|
| gptkbp:premiered_on |
infancy
|
| gptkbp:requires |
nutritional support
mobility aids ventilator support |
| gptkbp:research |
ongoing
|
| gptkbp:research_focus |
gptkb:gene_therapy
drug development symptom management |
| gptkbp:symptoms |
respiratory problems
muscle weakness difficulty swallowing hypotonia |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy respiratory support |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|