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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: Hereditary sensory and autonomic neuropathy type II (398148000); Charcot-Marie-Tooth disease, type II (398187000); Hereditary sensory and autonomic neuropathy, type II (398148000); Painless whitlow disease (398148000); Dominant hereditary sensory neuropathy, type II (398148000); 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)
 
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.

Recent clinical studies

Etiology

Kitaoji T, Noto YI, Kojima Y, Tsuji Y, Mizuno T, Nakagawa M
Clin Neurophysiol 2021 Oct;132(10):2693-2701. Epub 2021 Jun 29 doi: 10.1016/j.clinph.2021.05.030. PMID: 34294566
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Pérez J, Díaz-Manera J, Querol L, Del Mar García-Romero M, Ignacio Pascual S, García-Sobrino T, Paradas C, Francisco Vázquez-Costa J, Muelas N, Millet E, Jesús Vílchez J, Espinós C, Sevilla T
Eur J Neurol 2021 Sep;28(9):3001-3011. Epub 2021 Jul 18 doi: 10.1111/ene.15001. PMID: 34189813
Hauw F, Fargeot G, Adams D, Attarian S, Cauquil C, Chanson JB, Créange A, Gendre T, Deiva K, Delmont E, Francou B, Genestet S, Kuntzer T, Latour P, Le Masson G, Magy L, Nardin C, Ochsner F, Sole G, Stojkovic T, Maisonobe T, Tard C, Van den Berghe P, Echaniz-Laguna A
Eur J Neurol 2021 Sep;28(9):2846-2854. Epub 2021 Jun 23 doi: 10.1111/ene.14950. PMID: 34060689
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN).
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
Socha Hernandez AV, Deeks LS, Shield AJ
Int J Clin Pharm 2020 Dec;42(6):1507-1514. Epub 2020 Aug 17 doi: 10.1007/s11096-020-01123-z. PMID: 32804316

Diagnosis

Xie Y, Lin Z, Liu L, Li X, Huang S, Zhao H, Wang B, Zeng S, Cao W, Li L, Zhu X, Huang S, Yang H, Wang M, Hu Z, Wang J, Guo J, Shen L, Jiang H, Zuchner S, Tang B, Zhang R
Eur J Neurol 2021 Nov;28(11):3774-3783. Epub 2021 Jul 26 doi: 10.1111/ene.15024. PMID: 34255403
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Pérez J, Díaz-Manera J, Querol L, Del Mar García-Romero M, Ignacio Pascual S, García-Sobrino T, Paradas C, Francisco Vázquez-Costa J, Muelas N, Millet E, Jesús Vílchez J, Espinós C, Sevilla T
Eur J Neurol 2021 Sep;28(9):3001-3011. Epub 2021 Jul 18 doi: 10.1111/ene.15001. PMID: 34189813
Nan H, Hata T, Fukao T, Fukao T, Chen W, Kurita T, Natori T, Takiyama Y
Intern Med 2021 Dec 15;60(24):3969-3974. Epub 2021 Jun 12 doi: 10.2169/internalmedicine.7463-21. PMID: 34121014
Hauw F, Fargeot G, Adams D, Attarian S, Cauquil C, Chanson JB, Créange A, Gendre T, Deiva K, Delmont E, Francou B, Genestet S, Kuntzer T, Latour P, Le Masson G, Magy L, Nardin C, Ochsner F, Sole G, Stojkovic T, Maisonobe T, Tard C, Van den Berghe P, Echaniz-Laguna A
Eur J Neurol 2021 Sep;28(9):2846-2854. Epub 2021 Jun 23 doi: 10.1111/ene.14950. PMID: 34060689
Hamada Y, Takahashi K, Kanbayashi T, Hatanaka Y, Kobayashi S, Sonoo M
Intern Med 2021 May 15;60(10):1611-1614. Epub 2020 Dec 22 doi: 10.2169/internalmedicine.6153-20. PMID: 33361678Free PMC Article

Therapy

Õunpuu S, Garibay E, Acsadi G, Brimacombe M, Pierz K
Gait Posture 2021 Mar;85:198-204. Epub 2021 Feb 12 doi: 10.1016/j.gaitpost.2021.02.005. PMID: 33610823
Zuccarino R, Anderson KM, Shy ME, Wilken JM
Muscle Nerve 2021 Jan;63(1):40-45. Epub 2020 Aug 26 doi: 10.1002/mus.27027. PMID: 32696510Free PMC Article
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN).
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
Le-Rademacher JG, Lopez CL, Kanwar R, Major-Elechi B, Abyzov A, Banck MS, Therneau TM, Sloan JA, Loprinzi CL, Beutler AS
J Neurol Sci 2020 Apr 15;411:116687. Epub 2020 Jan 14 doi: 10.1016/j.jns.2020.116687. PMID: 32018185Free PMC Article
Rossor AM, Shy ME, Reilly MM
Brain Res 2020 Feb 15;1729:146625. Epub 2019 Dec 30 doi: 10.1016/j.brainres.2019.146625. PMID: 31899213Free PMC Article

Prognosis

Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM
J Neurol Neurosurg Psychiatry 2022 Jan;93(1):48-56. Epub 2021 Sep 13 doi: 10.1136/jnnp-2021-327186. PMID: 34518334Free PMC Article
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S
Brain 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. PMID: 33889941Free PMC Article
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN).
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
Park HJ, Choi YC, Oh JW, Yi SW
Neuroepidemiology 2020;54(4):313-319. Epub 2020 Jan 29 doi: 10.1159/000505815. PMID: 31995800
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

Clinical prediction guides

Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM
J Neurol Neurosurg Psychiatry 2022 Jan;93(1):48-56. Epub 2021 Sep 13 doi: 10.1136/jnnp-2021-327186. PMID: 34518334Free PMC Article
Kitaoji T, Noto YI, Kojima Y, Tsuji Y, Mizuno T, Nakagawa M
Clin Neurophysiol 2021 Oct;132(10):2693-2701. Epub 2021 Jun 29 doi: 10.1016/j.clinph.2021.05.030. PMID: 34294566
Xie Y, Lin Z, Liu L, Li X, Huang S, Zhao H, Wang B, Zeng S, Cao W, Li L, Zhu X, Huang S, Yang H, Wang M, Hu Z, Wang J, Guo J, Shen L, Jiang H, Zuchner S, Tang B, Zhang R
Eur J Neurol 2021 Nov;28(11):3774-3783. Epub 2021 Jul 26 doi: 10.1111/ene.15024. PMID: 34255403
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S
Brain 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. PMID: 33889941Free PMC Article
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN).
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article

Recent systematic reviews

Mandarakas MR, Rose KJ, Sanmaneechai O, Menezes MP, Refshauge KM, Burns J
J Peripher Nerv Syst 2018 Jun;23(2):99-107. Epub 2018 Mar 23 doi: 10.1111/jns.12258. PMID: 29521025
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294
Kennedy RA, Carroll K, McGinley JL
J Peripher Nerv Syst 2016 Dec;21(4):317-328. doi: 10.1111/jns.12183. PMID: 27513454
Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P
Cochrane Database Syst Rev 2015 Dec 11;(12):CD011952. doi: 10.1002/14651858.CD011952. PMID: 26662471Free PMC Article
Sman AD, Hackett D, Fiatarone Singh M, Fornusek C, Menezes MP, Burns J
J Peripher Nerv Syst 2015 Dec;20(4):347-62. doi: 10.1111/jns.12116. PMID: 26010435

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