U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

Charcot-Marie-Tooth disease type 2

MedGen UID:
124378
•Concept ID:
C0270914
•
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth Neuropathy Type 2; Charcot-Marie-Tooth, Type 2
SNOMED CT: Charcot-Marie-Tooth disease, type II (398187000); Inherited neuronal peroneal muscular atrophy (398187000); Hereditary motor and sensory neuropathy type II (398187000); Peroneal muscular atrophy of neuronal type (398187000); Charcot Marie Tooth disease, type 2 (398187000)
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)
 
Genes (locations): DNAJB2 (2q35); IGHMBP2 (11q13.3); MARS1 (12q13.3); MME (3q25.2)
Related genes: TRPV4, JPH1, GDAP1, HSPB8, KIF1B, MFN2, RAB7A, NEFL, MPZ, HSPB1, GARS1, DYNC1H1, AARS1
 
Monarch Initiative: MONDO:0018993
Orphanet: ORPHA64746

Definition

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Charcot-Marie-Tooth disease type 2 in Orphanet.

Professional guidelines

PubMed

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
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C
Arch Neurol 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284. PMID: 20008656

Recent clinical studies

Etiology

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A
Eur J Neurol 2023 Feb;30(2):511-526. Epub 2022 Nov 21 doi: 10.1111/ene.15601. PMID: 36260368Free PMC Article
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
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article

Diagnosis

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P
J Med Genet 2024 Mar 21;61(4):325-331. doi: 10.1136/jmg-2023-109485. PMID: 37890998
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A
Eur J Neurol 2023 Feb;30(2):511-526. Epub 2022 Nov 21 doi: 10.1111/ene.15601. PMID: 36260368Free PMC Article
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons.
Jacquier A, Risson V, Schaeffer L
J Vis Exp 2019 Jan 7;(143) doi: 10.3791/57988. PMID: 30663652
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H
Ann Neurol 2016 Apr;79(4):659-72. Epub 2016 Mar 17 doi: 10.1002/ana.24612. PMID: 26991897Free PMC Article
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Therapy

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Furuta Y, Nelson ET, Neumann SM, Phillips JA 3rd, Hamid R, Tinker RJ, Cogan JD, Rives L, Newman JH; Undiagnosed Diseases Network
Am J Med Genet A 2023 Dec;191(12):2873-2877. Epub 2023 Aug 25 doi: 10.1002/ajmg.a.63383. PMID: 37622199
Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
Panosyan FB, Tawil R, Herrmann DN
Muscle Nerve 2017 Jun;55(6):922-927. Epub 2017 Feb 12 doi: 10.1002/mus.25453. PMID: 27783406
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia.
Nishikawa T, Kawakami K, Kumamoto T, Tonooka S, Abe A, Hayasaka K, Okamoto Y, Kawano Y
J Pediatr Hematol Oncol 2008 Jul;30(7):519-21. doi: 10.1097/MPH.0b013e31816624a4. PMID: 18797198
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.
Teunissen LL, Notermans NC, Franssen H, Van Engelen BG, Baas F, Wokke JH
Arch Neurol 2003 Jun;60(6):823-8. doi: 10.1001/archneur.60.6.823. PMID: 12810486

Prognosis

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S
Mol Neurobiol 2019 Sep;56(9):6460-6471. Epub 2019 Mar 4 doi: 10.1007/s12035-019-1533-2. PMID: 30830587
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Clinical prediction guides

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Li L, Xie Y, Zeng S, Li X, Lin Z, Huang S, Zhao H, Cao W, Liu L, Liu J, Rong P, Zhang R
J Peripher Nerv Syst 2023 Dec;28(4):608-613. Epub 2023 Aug 22 doi: 10.1111/jns.12591. PMID: 37584201
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A
Eur J Neurol 2023 Feb;30(2):511-526. Epub 2022 Nov 21 doi: 10.1111/ene.15601. PMID: 36260368Free PMC Article
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R
Neuromuscul Disord 2017 Feb;27(2):193-199. Epub 2016 Nov 18 doi: 10.1016/j.nmd.2016.11.008. PMID: 28065684
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A
Brain 2016 Jan;139(Pt 1):73-85. Epub 2015 Nov 10 doi: 10.1093/brain/awv320. PMID: 26556829Free PMC Article

Recent systematic reviews

A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.
Tsamis KI, Xiromerisiou G, Nikas IP, Giannakis A, Konitsiotis S, Sarmas I
Lab Med 2022 Mar 7;53(2):210-214. doi: 10.1093/labmed/lmab060. PMID: 34480178

Supplemental Content

Filter your results:

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.

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...