U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Charcot-Marie-Tooth disease type 2T

MedGen UID:
977506
Concept ID:
CN294759
Disease or Syndrome
Synonyms: AR-CMT2T; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; CMT2T
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0044640
Orphanet: ORPHA495274

Definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Charcot-Marie-Tooth disease type 2T

Recent clinical studies

Etiology

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article

Diagnosis

Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F
Neurology 2006 Oct 10;67(7):1141-6. doi: 10.1212/01.wnl.0000238499.37764.b1. PMID: 17030746

Prognosis

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article
Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F
Neurology 2006 Oct 10;67(7):1141-6. doi: 10.1212/01.wnl.0000238499.37764.b1. PMID: 17030746

Clinical prediction guides

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article
Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F
Neurology 2006 Oct 10;67(7):1141-6. doi: 10.1212/01.wnl.0000238499.37764.b1. PMID: 17030746

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...