Charcot-Marie-Tooth disease type 1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:muscular_dystrophy gptkb:hereditary_spastic_paraplegia gptkb:rare_disease
gptkbp:affects	peripheral nerves
gptkbp:category	gptkb:peripheral_neuropathy gptkb:genetic_disorder 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
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	8
https://www.w3.org/2000/01/rdf-schema#label	Charcot-Marie-Tooth disease type 1