Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:alsoKnownAs |
gptkb:Dejerine–Sottas_disease
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
gptkb:Joseph_Jules_Dejerine
gptkb:Jules_Sottas 1893 |
| https://www.w3.org/2000/01/rdf-schema#label |
HMSN type III
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:PMP22_gene
gptkb:EGR2_gene gptkb:MPZ_gene |
| gptkbp:onset |
infancy
|
| gptkbp:partOf |
hereditary motor and sensory neuropathies
|
| gptkbp:symptom |
muscle weakness
sensory loss areflexia |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:Dejerine–Sottas_disease
|
| gptkbp:bfsLayer |
8
|