Charcot-Marie-Tooth disease, demyelinating, type 1G

Go to external page http://purl.obolibrary.org/obo/MONDO_0033135


A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. [ Orphanet:476394 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C4748940

definition

A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.

exactMatch

http://identifiers.org/omim/618279

http://www.orpha.net/ORDO/Orphanet_476394

http://purl.obolibrary.org/obo/DOID_0111560

has exact synonym

PMP2-related Charcot-Marie-Tooth disease type 1

CMT1G

Charcot-Marie-Tooth disease, demyelinating, type 1G

id

MONDO:0033135