Spinal and bulbar muscular atrophy
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease muscular dystrophy |
| gptkbp:affects |
lower motor neurons
bulbar muscles spinal muscles |
| gptkbp:alsoKnownAs |
gptkb:Kennedy's_disease
|
| gptkbp:causedBy |
mutation in the androgen receptor gene (AR)
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:William_R._Kennedy
1968 |
| gptkbp:frequency |
1-2 per 100,000 males
|
| gptkbp:hasOrphanetID |
ORPHA:457
|
| 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:MeSH_ID |
D020521
|
| gptkbp:OMIM |
313200
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
males
|
| gptkbp:symptom |
tremor
muscle atrophy muscle weakness gynecomastia fasciculations dysphagia |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:P06493
|
| gptkbp:bfsLayer |
6
|