Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:diseaseCategory |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:fullName |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D020754
|
| gptkbp:mutationAssociatedWith |
gptkb:MPZ
gptkb:AARS gptkb:HSPB8 gptkb:NEFL gptkb:HSPB1 gptkb:GDAP1 gptkb:GJB1 gptkb:MFN2 |
| gptkbp:OMIM |
118210
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:partOf |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
occupational therapy
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|