Charcot-Marie-Tooth disease type 2A
GPTKB entity
Statements (30)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
genetic disorder muscular dystrophy |
gptkbp:associatedWith |
peripheral neuropathy
distal muscle weakness reduced nerve conduction velocity |
gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
gptkbp:firstDescribed |
1992
|
https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2A
|
gptkbp:inheritance |
autosomal dominant
autosomal recessive |
gptkbp:mutationAssociatedWith |
MFN2 gene
|
gptkbp:namedAfter |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
gptkbp:OMIM |
118210
|
gptkbp:onset |
childhood
adolescence |
gptkbp:prevalence |
rare
|
gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
|
gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
gptkbp:bfsParent |
gptkb:MFN2
|
gptkbp:bfsLayer |
7
|