Charcot-Marie-Tooth disease type 2A
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:muscular_dystrophy gptkb:hereditary_spastic_paraplegia |
| gptkbp:associatedWith |
gptkb:peripheral_neuropathy
distal muscle weakness reduced nerve conduction velocity |
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| gptkbp:firstDescribed |
1992
|
| 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:mitofusin_2
gptkb:MFN2 gptkb:Mfn2 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2A
|