Charcot-Marie-Tooth disease type 1
GPTKB entity
Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
rare disease muscular dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:category |
genetic disorder
peripheral neuropathy demyelinating neuropathy |
| gptkbp:diagnosedBy |
genetic testing
clinical examination nerve conduction studies |
| gptkbp:differentialDiagnosis |
gptkb:Dejerine–Sottas_disease
gptkb:CMT2 hereditary neuropathy with liability to pressure palsies |
| gptkbp:firstDescribed |
1886
|
| gptkbp:frequency |
most common form of CMT
|
| gptkbp:hasOrphanetID |
ORPHA:101081
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 1
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D002605
|
| gptkbp:mutationAssociatedWith |
gptkb:PMP22_gene
gptkb:EGR2_gene gptkb:MPZ_gene LITAF gene NEFL gene |
| gptkbp:namedAfter |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
| gptkbp:OMIM |
118200
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
1 in 2,500 people
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:subspecies |
gptkb:CMT1D
CMT1A CMT1B CMT1C CMT1E CMT1F |
| gptkbp:symptom |
muscle weakness
foot drop high arched feet reduced reflexes loss of sensation in limbs |
| gptkbp:treatment |
occupational therapy
physical therapy pain management orthopedic devices |
| gptkbp:UMLS_CUI |
C0268186
|
| gptkbp:bfsParent |
gptkb:CMT1
|
| gptkbp:bfsLayer |
7
|