spinal and bulbar muscular atrophy
GPTKB entity
Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
motor neuron disease muscular dystrophy |
| gptkbp:affects |
lower motor neurons
males bulbar muscles spinal muscles |
| gptkbp:alsoKnownAs |
gptkb:Kennedy's_disease
|
| gptkbp:associatedWith |
androgen insensitivity
|
| gptkbp:firstDescribed |
gptkb:William_R._Kennedy
1968 |
| https://www.w3.org/2000/01/rdf-schema#label |
spinal and bulbar muscular atrophy
|
| gptkbp:ICD-10_code |
G12.1
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
Xq11-q12
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
androgen receptor gene |
| gptkbp:OMIM |
313200
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
tremor
cramps muscle atrophy muscle weakness gynecomastia fasciculations dysphagia |
| gptkbp:treatment |
supportive care
physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:Androgen_receptor
gptkb:NR3C4 gptkb:androgen_receptor gptkb:Kennedy's_disease gptkb:Xq12 |
| gptkbp:bfsLayer |
7
|