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																		 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 DiseaseCharcot-Marie-Tooth DiseaseCharcot Marie Tooth DiseaseMuscular Atrophy, PeronealAtrophies, Peroneal MuscularAtrophy, Peroneal MuscularMuscular Atrophies, PeronealPeroneal Muscular AtrophiesPeroneal Muscular AtrophyCharcot-Marie-Tooth Hereditary NeuropathyCharcot Marie Tooth Hereditary NeuropathyHereditary Neuropathy, Charcot-Marie-ToothAtrophy, Muscular, PeronealCharcot-Marie DiseaseCharcot Marie DiseaseCharcot-Marie-Tooth SyndromeCharcot Marie Tooth SyndromeSyndrome, Charcot-Marie-Tooth
 Roussy-Levy SyndromeRoussy-Levy SyndromeRoussy Levy SyndromeSyndrome, Roussy-LevyRoussy-Levy Hereditary Areflexic DystasiaRoussy-Levy DiseaseRoussy Levy DiseaseHereditary Areflexic DystasiaAreflexic Dystasia, HereditaryAreflexic Dystasias, HereditaryDystasia, Hereditary AreflexicDystasias, Hereditary AreflexicHereditary Areflexic DystasiasRoussy Levy Hereditary Areflexic Dystasia
 Hereditary Type I Motor and Sensory NeuropathyHereditary Type I Motor and Sensory NeuropathyHereditary Motor, and Sensory Neuropathy Type INeuropathy, Type I Hereditary Motor and SensoryHMSN IHMSN Type ICharcot-Marie-Tooth Disease, Type ICharcot Marie Tooth Disease, Type IHMN Distal Type I
 HMSN Type IIHMSN Type IINeuropathy, Type II Hereditary Motor and SensoryHMSN IICharcot-Marie-Tooth Disease, Type IICharcot Marie Tooth Disease, Type IIHereditary Motor and Sensory-Neuropathy Type IIHereditary Motor and Sensory Neuropathy Type II
 Charcot-Marie-Tooth Disease, Type IACharcot-Marie-Tooth Disease, Type IACharcot Marie Tooth Disease, Type IACharcot-Marie-Tooth Disease, Demyelinating, Type 1ACharcot-Marie-Tooth Disease, Type 1ACharcot Marie Tooth Disease, Type 1AHMSN1AHereditary Motor and Sensory Neuropathy 1AHereditary Motor and Sensory Neuropathy IAHMSN 1AHMSN IACharcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1ACharcot-Marie-Tooth Neuropathy, Type 1ACharcot Marie Tooth Neuropathy, Type 1A
 Charcot-Marie-Tooth Disease, Type IBCharcot-Marie-Tooth Disease, Type IBCharcot Marie Tooth Disease, Type IBCharcot-Marie-Tooth Disease, Demyelinating, Type 1BCharcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To DuffyCharcot-Marie-Tooth Disease, Type 1BCharcot Marie Tooth Disease, Type 1BHMSN1BHereditary Motor and Sensory Neuropathy 1BHereditary Motor And Sensory Neuropathy IBHMSN 1BHMSN IBCharcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1BCharcot-Marie-Tooth Neuropathy, Type 1BCharcot 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 | 
|---|
 | 2001 | 0 | 1 | 1 |  | 2009 | 2 | 0 | 2 |  | 2013 | 1 | 0 | 1 |  | 2014 | 2 | 0 | 2 |  | 2015 | 0 | 1 | 1 |  | 2016 | 2 | 0 | 2 |  | 2017 | 1 | 0 | 1 |  | 2018 | 1 | 0 | 1 |  | 2020 | 3 | 0 | 3 |  | 2021 | 1 | 0 | 1 |  | 2022 | 2 | 0 | 2 |  | 2023 | 1 | 0 | 1 |  | 2024 | 2 | 0 | 2 | 
 
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				Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles. 		
					
								
								McCray BA, Fridman V. Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease. Neurology. 2024 Dec 24; 103(12):e210120.
								Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP, Dohrn MF, Z?chner S. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 Jun; 29(2):202-212.
								Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
								Hedgecock JB, Kelley C, Jensen A, Rapport MJ. Collaborative Therapist-Patient Decision Making: A Power-Based Exercise Program for an Adolescent With CMT1A. Pediatr Phys Ther. 2023 01 01; 35(1):101-107.
								Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laur? M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 03; 93(3):563-576.
								Fridman V, Saporta MA. Mechanisms and Treatments in Demyelinating CMT. Neurotherapeutics. 2021 10; 18(4):2236-2268.
								Pfeffer GB, Gonzalez T, Brodsky J, Campbell J, Coetzee C, Conti S, Guyton G, Herrmann DN, Hunt K, Johnson J, McGarvey W, Pinzur M, Raikin S, Sangeorzan B, Younger A, Michalski M, An T, Noori N. A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease. Foot Ankle Int. 2020 07; 41(7):870-880.
								Vogt B, Chahin N, Wiszniewski W, Ragole T, Karam C. Screening for genetic mutations in patients with neuropathy without definite etiology is useful. J Neurol. 2020 Sep; 267(9):2648-2654.
								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, Laur? 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, Z?chner 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.
								Xu F, Takahashi H, Tanaka Y, Ichinose S, Niwa S, Wicklund MP, Hirokawa N. KIF1B? mutations detected in hereditary neuropathy impair IGF1R transport and axon growth. J Cell Biol. 2018 10 01; 217(10):3480-3496. | 
																	
																		
																			
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