Charcot-Marie-Tooth disease type 2K
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
gptkb:hereditary_spastic_paraplegia |
| gptkbp:abbreviation |
CMT2K
|
| gptkbp:associatedWith |
peripheral neuropathy
|
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
2002
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2K
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive variable expressivity |
| gptkbp:mutationAssociatedWith |
GDAP1 gene
|
| gptkbp:OMIM |
607831
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:GDAP1
|
| gptkbp:bfsLayer |
7
|