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Charcot-Marie-Tooth disease type 1D(CMT1D)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth disease, demyelinating, type 1d; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; CMT 1D; Hereditary motor and sensory neuropathy 1D; HMSN 1D; HMSN ID
SNOMED CT: Charcot-Marie-Tooth disease type ID (719979008); Charcot-Marie-Tooth disease type 1D (719979008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): EGR2 (10q21.3)
Monarch Initiative: MONDO:0011890
OMIM®: 607678
Orphanet: ORPHA101084


For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). [from OMIM]

Clinical features

From HPO
Upper limb muscle weakness
MedGen UID:
Concept ID:
Weakness of the muscles of the arms.
Foot dorsiflexor weakness
MedGen UID:
Concept ID:
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Peripheral neuropathy
MedGen UID:
Concept ID:
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Steppage gait
MedGen UID:
Concept ID:
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Decreased motor nerve conduction velocity
MedGen UID:
Concept ID:
A type of decreased nerve conduction velocity that affects the motor neuron.
Distal muscle weakness
MedGen UID:
Concept ID:
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Charcot-Marie-Tooth disease type 1D in Orphanet.

Recent clinical studies

Clinical prediction guides

Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM
Ann Neurol 2012 May;71(5):719-23. doi: 10.1002/ana.23527. PMID: 22522483

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