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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

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
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

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
Molecular and pathological studies in Charcot-Marie-Tooth disease 1A.
Kosuka N, Tachi N, Ohya K, Chiba S
Brain Dev 1997 Nov;19(7):464-8. doi: 10.1016/s0387-7604(97)00062-4. PMID: 9408592

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