Charcot-Marie-Tooth Disease

"Charcot-Marie-Tooth Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)

Descriptor ID	D002607
MeSH Number(s)	C10.500.300.200 C10.574.500.495.200 C10.668.829.800.300.200 C16.131.666.300.200 C16.320.400.375.200
Concept/Terms	Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Muscular Atrophy, Peroneal Atrophies, Peroneal Muscular Atrophy, Peroneal Muscular Muscular Atrophies, Peroneal Peroneal Muscular Atrophies Peroneal Muscular Atrophy Charcot-Marie-Tooth Hereditary Neuropathy Charcot Marie Tooth Hereditary Neuropathy Hereditary Neuropathy, Charcot-Marie-Tooth Atrophy, Muscular, Peroneal Charcot-Marie Disease Charcot Marie Disease Charcot-Marie-Tooth Syndrome Charcot Marie Tooth Syndrome Syndrome, Charcot-Marie-Tooth Roussy-Levy Syndrome Roussy-Levy Syndrome Roussy Levy Syndrome Syndrome, Roussy-Levy Roussy-Levy Hereditary Areflexic Dystasia Roussy-Levy Disease Roussy Levy Disease Hereditary Areflexic Dystasia Areflexic Dystasia, Hereditary Areflexic Dystasias, Hereditary Dystasia, Hereditary Areflexic Dystasias, Hereditary Areflexic Hereditary Areflexic Dystasias Roussy Levy Hereditary Areflexic Dystasia Hereditary Type I Motor and Sensory Neuropathy Hereditary Type I Motor and Sensory Neuropathy Hereditary Motor, and Sensory Neuropathy Type I Neuropathy, Type I Hereditary Motor and Sensory HMSN I HMSN Type I Charcot-Marie-Tooth Disease, Type I Charcot Marie Tooth Disease, Type I HMN Distal Type I HMSN Type II HMSN Type II Neuropathy, Type II Hereditary Motor and Sensory HMSN II Charcot-Marie-Tooth Disease, Type II Charcot Marie Tooth Disease, Type II Hereditary Motor and Sensory-Neuropathy Type II Hereditary Motor and Sensory Neuropathy Type II Charcot-Marie-Tooth Disease, Type IA Charcot-Marie-Tooth Disease, Type IA Charcot Marie Tooth Disease, Type IA Charcot-Marie-Tooth Disease, Demyelinating, Type 1A Charcot-Marie-Tooth Disease, Type 1A Charcot Marie Tooth Disease, Type 1A HMSN1A Hereditary Motor and Sensory Neuropathy 1A Hereditary Motor and Sensory Neuropathy IA HMSN 1A HMSN IA Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A Charcot-Marie-Tooth Neuropathy, Type 1A Charcot Marie Tooth Neuropathy, Type 1A Charcot-Marie-Tooth Disease, Type IB Charcot-Marie-Tooth Disease, Type IB Charcot Marie Tooth Disease, Type IB Charcot-Marie-Tooth Disease, Demyelinating, Type 1B Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Type 1B Charcot Marie Tooth Disease, Type 1B HMSN1B Hereditary Motor and Sensory Neuropathy 1B Hereditary Motor And Sensory Neuropathy IB HMSN 1B HMSN IB Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B Charcot-Marie-Tooth Neuropathy, Type 1B Charcot Marie Tooth Neuropathy, Type 1B

Below are MeSH descriptors whose meaning is more general than "Charcot-Marie-Tooth Disease".

Diseases [C]
Nervous System Diseases [C10]
Nervous System Malformations [C10.500]
Hereditary Sensory and Motor Neuropathy [C10.500.300]
Charcot-Marie-Tooth Disease [C10.500.300.200]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Hereditary Sensory and Motor Neuropathy [C10.574.500.495]
Charcot-Marie-Tooth Disease [C10.574.500.495.200]
Neuromuscular Diseases [C10.668]
Peripheral Nervous System Diseases [C10.668.829]
Polyneuropathies [C10.668.829.800]
Hereditary Sensory and Motor Neuropathy [C10.668.829.800.300]
Charcot-Marie-Tooth Disease [C10.668.829.800.300.200]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Nervous System Malformations [C16.131.666]
Hereditary Sensory and Motor Neuropathy [C16.131.666.300]
Charcot-Marie-Tooth Disease [C16.131.666.300.200]
Genetic Diseases, Inborn [C16.320]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Hereditary Sensory and Motor Neuropathy [C16.320.400.375]
Charcot-Marie-Tooth Disease [C16.320.400.375.200]

Below are MeSH descriptors whose meaning is related to "Charcot-Marie-Tooth Disease".

Below are MeSH descriptors whose meaning is more specific than "Charcot-Marie-Tooth Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Charcot-Marie-Tooth Disease" by people in this website by year, and whether "Charcot-Marie-Tooth Disease" was a major or minor topic of these publications.

Bar chart showing 145 publications over 30 distinct years, with a maximum of 11 publications in 1993 and 1996

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1990	2	0	2
1991	2	0	2
1992	5	0	5
1993	10	1	11
1994	4	1	5
1995	2	1	3
1996	11	0	11
1997	7	2	9
1998	2	2	4
1999	6	2	8
2000	4	0	4
2001	6	2	8
2002	5	1	6
2003	4	1	5
2004	2	0	2
2005	4	0	4
2006	8	1	9
2007	3	1	4
2009	2	0	2
2010	4	0	4
2011	2	1	3
2012	0	1	1
2013	1	0	1
2014	4	0	4
2015	7	0	7
2016	2	1	3
2017	5	0	5
2018	6	0	6
2019	6	0	6
2020	1	0	1

Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.

Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.

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Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 12 02; 129(12):5568-5583.

View in: PubMed
Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 12; 24(4):324-329.

View in: PubMed
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019 07; 86(1):55-67.

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Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 06; 24(2):213-218.

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Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 03; 85(3):316-330.

View in: PubMed
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019; 6(2):201-211.

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Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137.

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Tatsumi Y, Matsumoto N, Iibe N, Watanabe N, Torii T, Sango K, Homma K, Miyamoto Y, Sakagami H, Yamauchi J. CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid. Neurosci Res. 2019 Feb; 139:69-78.

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Punetha J, Mackay-Loder L, Harel T, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Lee I, Terespolsky D, Lupski JR, Posey JE. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 11; 125(3):302-304.

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