Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Psychologist
|
| gptkbp:associated_with |
gptkb:SMA_type_2
gptkb:SMA_type_3 gptkb:SMA_type_1 |
| gptkbp:characteristics |
Mild symptoms
Normal life expectancy Progressive weakness Variable progression |
| gptkbp:demographics |
Rare
|
| gptkbp:diseaseResistance |
Variable
Genetic testing Clinical evaluation |
| gptkbp:geneticDiversity |
SMN1 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMA type 4
|
| gptkbp:impact |
Adults
Mobility Quality of life Medications Occupational therapy Physical therapy Daily activities |
| gptkbp:inheritsFrom |
Adulthood
Typically after age 10 |
| gptkbp:judgingCriteria |
Electromyography (EMG)
Neurological examination Clinical history |
| gptkbp:nobleFamily |
Autosomal recessive
|
| gptkbp:research |
Ongoing
|
| gptkbp:supports |
Community resources
Patient advocacy groups |
| gptkbp:symptoms |
Muscle weakness
Muscle atrophy Tremors |