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Charcot-Marie-Tooth Disease (CUI C0007959) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0007959

NCI Thesaurus Code: C75467  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

GARD Definition: Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in at least 30 genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, "slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.

There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people.

CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak.

Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help.

NIH: National Institute of Neurological Disorders and Stroke

MSH Definition: 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)

Synonyms & Abbreviations: (see Synonym Details)
Atrophies, Peroneal Muscular
Atrophy, Muscular, Peroneal
Atrophy, Peroneal Muscular
Charcot Marie Disease
CHARCOT MARIE DIS
Charcot Marie Tooth Disease
CHARCOT MARIE TOOTH DIS
Charcot Marie Tooth Hereditary Neuropathy
Charcot Marie Tooth muscular atrophy
Charcot Marie Tooth Syndrome
Charcot-Marie Disease
CHARCOT-MARIE-TOOTH ATROPHY
Charcot-Marie-Tooth Disease (Variant)
Charcot-Marie-Tooth Disease [Disease/Finding]
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth hereditary neuropathy
Charcot-Marie-Tooth Syndrome
Charcot-Marie-Tooth-Roussy-Levy Disease
CHARCOT-MARIE-TOOTH
CMT
Hereditary motor and sensory neuropathy
Hereditary Neuropathy, Charcot-Marie-Tooth
Hereditary Sensorimotor Neuropathy
HMSN
Muscular Atrophies, Peroneal
Muscular Atrophy, Peroneal
Peroneal muscle atrophy
Peroneal Muscular Atrophies
peroneal muscular atrophy
Syndrome, Charcot-Marie-Tooth

External Source Codes: 
NCI Thesaurus Code C75467 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
DATE_CREATED 07/11/2000 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DID 2042-7637 CSP
DISEASE_IDENTIFIER_ID 14773 GARD
DISEASE_IDENTIFIER_ID 14774 GARD
DISEASE_IDENTIFIER_ID 17784 GARD
DISEASE_IDENTIFIER_ID 17785 GARD
DISEASE_IDENTIFIER_ID 17786 GARD
DISEASE_IDENTIFIER_ID 17787 GARD
DISEASE_IDENTIFIER_ID 30889 GARD
DISEASE_IDENTIFIER_ID 7959 GARD
DX 19910101 MSH
FX D018993 MSH
HAS_GARD_PAGE true GARD
HN 2000(1966) MSH
ICE Charcot-Marie-Tooth disease; Neuropathic muscular atrophy ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Comment Added GARD
LAST_REVIEW_DATE 2009-01-02T00:00:00 GARD
MDA 19991108 MSH
MESH_DEFINITION 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) NDFRT
MESH_DUI D002607 NDFRT
MESH_NAME Charcot-Marie-Tooth Disease NDFRT
MESH_UI M0003994 NDFRT
MMR 20130708 MSH
MN C10.500.300.200 MSH
MN C10.574.500.495.200 MSH
MN C10.668.829.800.300.200 MSH
MN C16.131.666.300.200 MSH
MN C16.320.400.375.200 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/charcotmarietoothdisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/charcotmarietoothdisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000000742 NDFRT
PM 2000; see CHARCOT-MARIE DISEASE 1991-1999, see MUSCULAR ATROPHY, SPINAL 1988-1990, see MUSCULAR ATROPHY 1966-1987; for CHARCOT-MARIE-TOOTH DISEASE see CHARCOT-MARIE DISEASE 1991-1999 MSH
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6034/charcot-marie-tooth-disease/resources/1 GARD
RXAUI 3112362 RXNORM
RXAUI 3132121 RXNORM
RXAUI 3132122 RXNORM
RXAUI 3132123 RXNORM
RXAUI 3200337 RXNORM
RXAUI 3219340 RXNORM
RXAUI 5930542 RXNORM
RXAUI 5930543 RXNORM
RXCUI 1023528 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 8.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 19.0 MDR
SMQ_TERM_LMVERSION 8.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 50548001 NDFRT
TERMUI T007589 MSH
TERMUI T007590 MSH
TERMUI T371952 MSH
TERMUI T371955 MSH
TERMUI T371956 MSH
TERMUI T841101 MSH
TERMUI T841102 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2000) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0007959

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