U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Charcot-Marie-Tooth disease, type I(CMT1)

MedGen UID:
155486
•Concept ID:
C0751036
•
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth, Type 1; CMT1; Hereditary Motor and Sensory Neuropathy 1
SNOMED CT: Charcot-Marie-Tooth disease, type I (398040009); Hereditary sensory-motor neuropathy, type I (398040009); Peroneal muscular atrophy of demyelinating type (398040009); Inherited dominant hypertrophic neuropathy (398040009); Hereditary motor and sensory neuropathy type I (398040009); Charcot-Marie-Tooth disease of demyelinating type (398040009); HSMN, type I (398040009); Charcot Marie Tooth disease, type 1 (398040009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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.
Autosomal dominant inheritance (Orphanet)
 
Related genes: LITAF, PMP22, NEFL, MPZ, EGR2
 
Monarch Initiative: MONDO:0019011
OMIM®: 118200
Orphanet: ORPHA65753

Definition

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C, Pareyson D
Neuromuscul Disord 2023 Aug;33(8):627-635. Epub 2023 Jul 4 doi: 10.1016/j.nmd.2023.07.001. PMID: 37455204
Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Recent clinical studies

Etiology

Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.
Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S
Gait Posture 2020 Mar;77:236-242. Epub 2020 Feb 1 doi: 10.1016/j.gaitpost.2020.01.027. PMID: 32062403
Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.
Kim HS, Yoon YC, Choi BO, Jin W, Cha JG, Kim JH
Eur Radiol 2019 Jun;29(6):3241-3252. Epub 2019 Jan 11 doi: 10.1007/s00330-018-5958-1. PMID: 30635758
The hypothesis of overwork weakness in Charcot-Marie-Tooth: a critical evaluation.
van Pomeren M, Selles RW, van Ginneken BT, Schreuders TA, Janssen WG, Stam HJ
J Rehabil Med 2009 Jan;41(1):32-4. doi: 10.2340/16501977-0274. PMID: 19197566
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Hum Mutat 2001;18(1):32-41. doi: 10.1002/humu.1147. PMID: 11438991
Disability and quality of life in Charcot-Marie-Tooth disease type 1.
Pfeiffer G, Wicklein EM, Ratusinski T, Schmitt L, Kunze K
J Neurol Neurosurg Psychiatry 2001 Apr;70(4):548-50. doi: 10.1136/jnnp.70.4.548. PMID: 11254787Free PMC Article

Diagnosis

Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.
Kim HS, Yoon YC, Choi BO, Jin W, Cha JG, Kim JH
Eur Radiol 2019 Jun;29(6):3241-3252. Epub 2019 Jan 11 doi: 10.1007/s00330-018-5958-1. PMID: 30635758
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Hum Mutat 2001;18(1):32-41. doi: 10.1002/humu.1147. PMID: 11438991
Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
Olek MJ, Bordeaux B, Leshner RT
J Am Osteopath Assoc 1999 Mar;99(3):165-7. doi: 10.7556/jaoa.1999.99.3.165. PMID: 10217912
Preliminary study of large and small peripheral nerve fibers in Charcot-Marie-Tooth disease, type I.
Hanson P, Deltombe T
Am J Phys Med Rehabil 1998 Jan-Feb;77(1):45-8. doi: 10.1097/00002060-199801000-00008. PMID: 9482378
Charcot-Marie-Tooth disease: a case presenting with hyperreflexia.
Shieh CC, Wang PJ, Lin HJ, Lin MY, Hsieh HC, Shen YZ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1990 Mar-Apr;31(2):116-21. PMID: 2275366

Therapy

Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
Olek MJ, Bordeaux B, Leshner RT
J Am Osteopath Assoc 1999 Mar;99(3):165-7. doi: 10.7556/jaoa.1999.99.3.165. PMID: 10217912

Prognosis

Disability and quality of life in Charcot-Marie-Tooth disease type 1.
Pfeiffer G, Wicklein EM, Ratusinski T, Schmitt L, Kunze K
J Neurol Neurosurg Psychiatry 2001 Apr;70(4):548-50. doi: 10.1136/jnnp.70.4.548. PMID: 11254787Free PMC Article
Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
Olek MJ, Bordeaux B, Leshner RT
J Am Osteopath Assoc 1999 Mar;99(3):165-7. doi: 10.7556/jaoa.1999.99.3.165. PMID: 10217912

Clinical prediction guides

Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.
Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S
Gait Posture 2020 Mar;77:236-242. Epub 2020 Feb 1 doi: 10.1016/j.gaitpost.2020.01.027. PMID: 32062403
Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.
Kim HS, Yoon YC, Choi BO, Jin W, Cha JG, Kim JH
Eur Radiol 2019 Jun;29(6):3241-3252. Epub 2019 Jan 11 doi: 10.1007/s00330-018-5958-1. PMID: 30635758
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Hum Mutat 2001;18(1):32-41. doi: 10.1002/humu.1147. PMID: 11438991
Disability and quality of life in Charcot-Marie-Tooth disease type 1.
Pfeiffer G, Wicklein EM, Ratusinski T, Schmitt L, Kunze K
J Neurol Neurosurg Psychiatry 2001 Apr;70(4):548-50. doi: 10.1136/jnnp.70.4.548. PMID: 11254787Free PMC Article
Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
Olek MJ, Bordeaux B, Leshner RT
J Am Osteopath Assoc 1999 Mar;99(3):165-7. doi: 10.7556/jaoa.1999.99.3.165. PMID: 10217912

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...