Statements (39)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:abbreviation |
SBMA
|
| gptkbp:affects |
lower motor neurons
bulbar muscles limb muscles |
| gptkbp:affectsGender |
males predominantly
|
| gptkbp:alsoKnownAs |
gptkb:spinal_and_bulbar_muscular_atrophy
|
| gptkbp:category |
neurodegenerative disease
motor neuron disease |
| gptkbp:causedBy |
mutation in the androgen receptor gene
|
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
gptkb:William_R._Kennedy
1968 |
| gptkbp:frequency |
1 in 40,000 males
|
| gptkbp:gene |
gptkb:AR_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kennedy's disease
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
|
| gptkbp:notableFeature |
CAG trinucleotide repeat expansion
androgen insensitivity |
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
normal life expectancy
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
tremor
muscle weakness muscle cramps gynecomastia fasciculations dysphagia reduced fertility |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:CAG
|
| gptkbp:bfsLayer |
6
|