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
|
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".
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 |
---|
1995 | 0 | 1 | 1 |
2011 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
2023 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
-
ATP1A1-linked diseases require a malfunctioning protein product from one allele. Biochim Biophys Acta Mol Cell Res. 2024 01; 1871(1):119572.
-
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS. Proc Natl Acad Sci U S A. 2021 03 30; 118(13).
-
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells. Proc Natl Acad Sci U S A. 2019 09 24; 116(39):19440-19448.
-
Charcot-Marie-Tooth and trigeminal neuralgia. Clin Neurol Neurosurg. 2013 Oct; 115(10):2234-5.
-
Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. Ophthalmic Genet. 2011 Sep; 32(3):188-92.
-
Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy. Neurochem Res. 2009 Jan; 34(1):124-37.
-
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics. 1997 Sep; 1(2):89-93.
-
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. Am J Hum Genet. 1996 Jul; 59(1):258-62.
-
Autosomal dominant distal spinal muscular atrophy in four generations. Neurology. 1995 Apr; 45(4):699-704.
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct; 2(10):1625-8.