Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
rare disease muscular dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alsoKnownAs |
gptkb:CMT
|
| gptkbp:cause |
genetic disorder
|
| gptkbp:complication |
chronic pain
difficulty walking loss of mobility deformities of feet and hands |
| gptkbp:diagnosedBy |
genetic testing
clinical examination nerve conduction study |
| gptkbp:field |
genetics
neurology |
| gptkbp:firstDescribed |
1886
|
| gptkbp:frequency |
1 in 2,500 people
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot–Marie–Tooth disease
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:MeSH_ID |
D002786
|
| gptkbp:namedAfter |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
| gptkbp:OMIM |
118220
|
| gptkbp:onset |
childhood
adolescence early adulthood |
| gptkbp:prevalence |
commonest inherited neurological disorder
|
| gptkbp:subspecies |
gptkb:CMT1
gptkb:CMT2 gptkb:CMT3 gptkb:CMT4 gptkb:CMTX |
| gptkbp:symptom |
muscle atrophy
muscle weakness loss of sensation foot drop claw toes high arched feet |
| gptkbp:treatment |
orthopedic surgery
occupational therapy physical therapy pain management orthopedic devices |
| gptkbp:bfsParent |
gptkb:Pierre_Marie
gptkb:Victor_Bailey |
| gptkbp:bfsLayer |
6
|