Charcot-Marie-Tooth disease, X-linked dominant, type 1

GPTKB entity

Statements (22)
Predicate Object
gptkbp:instanceOf genetic disorder
muscular dystrophy
gptkbp:affects peripheral nervous system
gptkbp:alternativeName gptkb:CMTX1
Charcot-Marie-Tooth neuropathy X type 1
gptkbp:firstDescribed 1993
https://www.w3.org/2000/01/rdf-schema#label Charcot-Marie-Tooth disease, X-linked dominant, type 1
gptkbp:ICD-10_code gptkb:G60.0
gptkbp:inheritance X-linked dominant
gptkbp:mutationAssociatedWith gptkb:GJB1_gene
gptkbp:OMIM 302800
gptkbp:onset childhood
gptkbp:prevalence rare
gptkbp:symptom muscle weakness
sensory loss
foot deformities
reduced reflexes
gptkbp:treatment occupational therapy
physical therapy
orthopedic devices
gptkbp:bfsParent gptkb:NM_000218
gptkbp:bfsLayer 7