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