 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.
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
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| 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
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| 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
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Below are MeSH descriptors whose meaning is more general than "Charcot-Marie-Tooth Disease".
Below are MeSH descriptors whose meaning is more specific than "Charcot-Marie-Tooth Disease".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
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Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, ?stergaard E, Nazaryan-Petersen L, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabe de Angelis M, H?lter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
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