CMT
MCID: CHR071
MIFTS: 67

Charcot-Marie-Tooth Disease (CMT) malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases, Genetic diseases, Fetal diseases, Ear diseases, Metabolic diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease

Aliases & Descriptions for Charcot-Marie-Tooth Disease:

Name: Charcot-Marie-Tooth Disease 38 12 50 25 51 52 41 42 14 69
Hereditary Motor and Sensory Neuropathy 50 25
Charcot-Marie-Tooth Syndrome 25 29
Peroneal Muscular Atrophy 12 25
Hmsn 50 25
Cmt 50 25
Charcot-Marie-Tooth Hereditary Neuropathy 25
Hereditary Motor and Sensory Neuropathies 69
Charcot Marie Tooth Muscular Atrophy 12
Cmt - Charcot-Marie-Tooth Disease 12
Charcot Marie Tooth Disease 50
Pma 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
ICD10 33 G60.0
ICD9CM 35 356.1
MeSH 42 D002607
NCIt 47 C75467
UMLS 69 C0007959

Summaries for Charcot-Marie-Tooth Disease

NINDS : 51 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States.  CMT,  also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves.  The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs.  A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some individuals experience pain, which can range from mild to severe.

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, type 1e and charcot-marie-tooth disease, type 2a1, and has symptoms including ataxia, gait disturbance and scoliosis. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (Myelin Protein Zero), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Lidocaine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, brain and spinal cord, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Disease Ontology : 12 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

Genetics Home Reference : 25 Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.

NIH Rare Diseases : 50 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 many different 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. last updated: 3/1/2016

MedlinePlus : 41 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

Wikipedia : 71 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... more...

Related Diseases for Charcot-Marie-Tooth Disease

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

Diseases related to Charcot-Marie-Tooth Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 1e 34.9 EGR2 GJB1 KIF1B MPZ PMP22
2 charcot-marie-tooth disease, type 2a1 34.8 KIF1B MFN2
3 charcot-marie-tooth disease, type 2a2 34.7 DNAJB2 MFN2
4 charcot-marie-tooth disease, type 2i 34.7 KIF1B MPZ
5 charcot-marie-tooth disease, dominant intermediate d 34.6 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2k 34.6 GDAP1 MTMR2
7 charcot-marie-tooth disease, type 2j 34.6 AARS DNAJB2 DYNC1H1 EGR2 GDAP1 GJB1
8 dejerine-sottas disease 34.1 GDAP1 GJB1 KIF1B MFN2 MPZ PMP22
9 neuropathy, congenital hypomyelinating 33.9 EGR2 GDAP1 GJB1 KIF1B MPZ MTMR2
10 hereditary motor and sensory neuropathy via 33.8 MFN2 PMP22
11 charcot-marie-tooth disease, type 2e 12.9
12 charcot-marie-tooth disease, type 1a 12.9
13 charcot-marie-tooth disease, type 1b 12.8
14 charcot-marie-tooth disease, type 4a 12.8
15 charcot-marie-tooth disease, type 4h 12.8
16 charcot-marie-tooth disease, type 4b2 12.8
17 charcot-marie-tooth disease, type 2b 12.8
18 charcot-marie-tooth disease, type 4c 12.8
19 charcot-marie-tooth disease, type 2d 12.8
20 charcot-marie-tooth disease, type 4b1 12.8
21 charcot-marie-tooth disease, type 4j 12.8
22 charcot-marie-tooth disease, type 4f 12.8
23 charcot-marie-tooth disease, type 1c 12.8
24 charcot-marie-tooth disease, type 1d 12.8
25 charcot-marie-tooth disease, type 4b3 12.7
26 charcot-marie-tooth disease, type 2b1 12.7
27 charcot-marie-tooth disease, type 2b2 12.7
28 charcot-marie-tooth disease, dominant intermediate b 12.7
29 charcot-marie-tooth disease, type 4d 12.7
30 charcot-marie-tooth disease, axonal, type 2s 12.7
31 charcot-marie-toothe disease, axonal, type 2p 12.7
32 charcot-marie-tooth disease, recessive intermediate, a 12.7
33 charcot-marie-tooth disease, axonal, type 2l 12.7
34 charcot-marie-tooth disease, type 2r 12.7
35 charcot-marie-tooth disease, dominant intermediate e 12.7
36 charcot-marie-tooth disease, type 1f 12.7
37 charcot-marie-tooth disease, axonal, type 2q 12.7
38 charcot-marie-tooth disease, axonal, type 2u 12.7
39 charcot-marie-tooth disease type 4k 12.7
40 charcot-marie-tooth disease, axonal, type 2n 12.7
41 charcot-marie-tooth disease, axonal, type 20 12.7
42 charcot-marie-tooth disease, x-linked recessive, 5 12.7
43 charcot-marie-tooth disease, axonal, type 2f 12.7
44 charcot-marie-tooth disease, recessive intermediate, b 12.7
45 charcot-marie-tooth disease, axonal, type 2v 12.6
46 charcot-marie-tooth disease, dominant intermediate c 12.6
47 charcot-marie-tooth disease, recessive intermediate d 12.6
48 charcot-marie-tooth disease, x-linked dominant, 6 12.6
49 charcot-marie-tooth disease, dominant intermediate f 12.6
50 charcot-marie-tooth disease, axonal, type 2w 12.6

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease:



Diseases related to Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease

Human phenotypes related to Charcot-Marie-Tooth Disease:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 gait disturbance 32 HP:0001288
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 laryngomalacia 32 HP:0001601
6 emg abnormality 32 HP:0003457
7 decreased nerve conduction velocity 32 HP:0000762
8 reduced tendon reflexes 32 HP:0001315
9 paralysis 32 HP:0003470
10 abnormality of the voice 32 HP:0001608
11 impaired pain sensation 32 HP:0007328
12 abnormality of the pharynx 32 HP:0000600
13 distal amyotrophy 32 HP:0003693

UMLS symptoms related to Charcot-Marie-Tooth Disease:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 EGR2 GJB1 HSPB1 LMNA MARS MPZ

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 AARS DYNC1H1 EGR2 GDAP1 GJB1 IGHMBP2
2 cellular MP:0005384 10.06 AARS EGR2 GDAP1 GJB1 HSPB1 HSPB8
3 homeostasis/metabolism MP:0005376 10.03 HSPB1 HSPB8 IGHMBP2 KIF1B LMNA MFN2
4 mortality/aging MP:0010768 9.97 IGHMBP2 KIF1B LMNA MFN2 MPZ MTMR2
5 muscle MP:0005369 9.65 AARS DYNC1H1 HSPB8 IGHMBP2 KIF1B LMNA
6 nervous system MP:0003631 9.5 DYNC1H1 EGR2 GDAP1 GJB1 IGHMBP2 KIF1B

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

Drugs for Charcot-Marie-Tooth Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 200)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
5
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
8
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
9
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
10
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
11
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
12
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
13
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
15
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
16 Protective Agents Phase 4,Phase 2,Phase 3
17 Analgesics Phase 4,Phase 3,Phase 2
18 Anesthetics Phase 4,Phase 2,Phase 3
19 Anesthetics, Local Phase 4,Phase 2,Phase 3
20 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
21 Anticonvulsants Phase 4,Phase 3
22 Antimanic Agents Phase 4,Phase 3
23 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
24 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Psychotropic Drugs Phase 4,Phase 3,Phase 2
28 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
29 Tranquilizing Agents Phase 4,Phase 3,Phase 2
30 Antiemetics Phase 4,Phase 2,Phase 3
31 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
33 Autonomic Agents Phase 4,Phase 2,Phase 3
34 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
35 glucocorticoids Phase 4,Phase 3,Phase 2
36 Hormone Antagonists Phase 4,Phase 3,Phase 2
37 Hormones Phase 4,Phase 3,Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
39 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
40 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
41 Neuroprotective Agents Phase 4,Phase 2,Phase 3
42 Prednisolone acetate Phase 4,Phase 2,Phase 3
43 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
44 Prednisolone phosphate Phase 4,Phase 2,Phase 3
45 Analgesics, Non-Narcotic Phase 4,Phase 2
46 Respiratory System Agents Phase 4,Phase 3
47 Antioxidants Phase 4,Phase 2,Phase 3
48 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
49 Thioctic Acid Phase 4,Phase 2
50 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 230)
id Name Status NCT ID Phase
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4
3 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
4 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
5 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
8 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
9 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
10 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
11 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4
12 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4
13 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Enrolling by invitation NCT02652390 Phase 4
14 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4
15 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
16 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
17 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
18 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
19 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
20 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
21 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3
22 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3
23 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3
24 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3
25 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
26 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
27 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
28 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
29 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
30 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3
31 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3
32 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
33 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3
34 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3
35 Patient Outcomes With Endoscopic Versus Open Carpal Tunnel Release Unknown status NCT00880295 Phase 2
36 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
37 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
38 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2
39 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
40 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
41 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
42 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
43 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
44 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
45 Treatment for Cubital Tunnel Syndrome Completed NCT00184158 Phase 2
46 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2
47 Sham Device, Pill Placebo or Treatment For Arm Pain Completed NCT00029497 Phase 2
48 Acupuncture for Carpal Tunnel Syndrome Completed NCT00000394 Phase 2
49 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
50 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Cochrane evidence based reviews: charcot-marie-tooth disease

Genetic Tests for Charcot-Marie-Tooth Disease

Genetic tests related to Charcot-Marie-Tooth Disease:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease 29

Anatomical Context for Charcot-Marie-Tooth Disease

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease:

39
Brain, Spinal Cord, Testes, Skin, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
id Tissue Anatomical CompartmentCell Relevance
1 Peripheral Nervous System Peripheral Nerve Domain Myelinating Schwann Cells Affected by disease

Publications for Charcot-Marie-Tooth Disease

Articles related to Charcot-Marie-Tooth Disease:

(show top 50) (show all 979)
id Title Authors Year
1
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing. ( 28379183 )
2017
2
Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. ( 28527386 )
2017
3
Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A). ( 28214652 )
2017
4
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. ( 28286897 )
2017
5
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. ( 27908631 )
2017
6
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. ( 28364294 )
2017
7
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. ( 28335037 )
2017
8
Erratum: Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease. ( 27995668 )
2017
9
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. ( 28509084 )
2017
10
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. ( 28211244 )
2017
11
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease. ( 28236508 )
2017
12
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K. ( 28495047 )
2017
13
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model. ( 28469666 )
2017
14
Long-Term Effective Thalamic Deep Brain Stimulation for Neuropathic Tremor in Two Patients with Charcot-Marie-Tooth Disease. ( 28297702 )
2017
15
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. ( 28244113 )
2017
16
New mutation in a patient with Charcot-Marie-Tooth disease. ( 28318735 )
2017
17
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. ( 28501821 )
2017
18
Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. ( 28438772 )
2017
19
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease. ( 28132977 )
2017
20
Deterioration in gait and functional ambulation in children and adolescents with Charcot-Marie-Tooth disease over 12 months. ( 28495045 )
2017
21
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
22
Erratum to: Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. ( 28389936 )
2017
23
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. ( 28224639 )
2017
24
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities. ( 27774063 )
2016
25
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. ( 26912637 )
2016
26
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T. ( 27458975 )
2016
27
Successful Treatment of Amyloid Light-chain Amyloidosis in a Charcot-Marie-Tooth Disease Patient with Lenalidomide, Cyclophosphamide, and Dexamethasone. ( 27629972 )
2016
28
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. ( 26801680 )
2016
29
Precision Medicine for Charcot-Marie-Tooth Disease. ( 27042938 )
2016
30
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-I+6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. ( 27068304 )
2016
31
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. ( 27043305 )
2016
32
The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases. ( 27703571 )
2016
33
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. ( 27009151 )
2016
34
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B. ( 27614573 )
2016
35
Narcolepsy with cataplexy in a child with Charcot-Marie-Tooth disease. Case Report. ( 27857041 )
2016
36
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2. ( 27154191 )
2016
37
[Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease]. ( 27577214 )
2016
38
Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer. ( 27460291 )
2016
39
Progression of motor axon dysfunction and ectopic Nav1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B. ( 27215377 )
2016
40
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. ( 28065684 )
2016
41
Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A. ( 27917570 )
2016
42
Anesthetic Management of a Patient With Charcot-Marie-Tooth Disease. ( 27269665 )
2016
43
Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease. ( 27126998 )
2016
44
A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening. ( 27020035 )
2016
45
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. ( 27105897 )
2016
46
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. ( 27686364 )
2016
47
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. ( 27862672 )
2016
48
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(a8c) Activity Monitor and identification of the walking features related to higher quality of life. ( 27160471 )
2016
49
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients. ( 27098783 )
2016
50
Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease. ( 27367520 )
2016

Variations for Charcot-Marie-Tooth Disease

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease:

6 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
2 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
3 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
4 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh37 Chromosome 12, 119624883: 119624883
5 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
6 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
7 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
8 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
9 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
10 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
11 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
12 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
13 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
14 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
15 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
16 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
17 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
18 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
19 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
20 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Pathogenic rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
21 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh37 Chromosome 14, 102446843: 102446843
22 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
23 LMNA NM_170707.3(LMNA): c.1908C> T (p.Ser636=) single nucleotide variant Pathogenic rs80356814 GRCh37 Chromosome 1, 156108488: 156108488
24 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
25 HSPB1 NM_001540.3(HSPB1): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs587781250 GRCh38 Chromosome 7, 76303817: 76303817
26 SBF1 NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn) single nucleotide variant Pathogenic/Likely pathogenic rs690016543 GRCh37 Chromosome 22, 50903435: 50903435
27 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
28 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Pathogenic rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
29 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
30 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh38 Chromosome 2, 219281772: 219281772
31 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh38 Chromosome 2, 219279847: 219279847
32 MARS NM_004990.3(MARS): c.2398C> A (p.Pro800Thr) single nucleotide variant Pathogenic rs781249411 GRCh37 Chromosome 12, 57909709: 57909709
33 LRSAM1 NM_138361.5(LRSAM1): c.1913-1G> A single nucleotide variant Pathogenic rs756880678 GRCh37 Chromosome 9, 130263288: 130263288
34 IGHMBP2 NM_002180.2(IGHMBP2): c.449+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs797044802 GRCh38 Chromosome 11, 68908338: 68908338
35 IGHMBP2 NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr) single nucleotide variant Pathogenic rs756985703 GRCh38 Chromosome 11, 68934517: 68934517
36 IGHMBP2 NM_002180.2(IGHMBP2): c.2784+1G> T single nucleotide variant Pathogenic rs797044803 GRCh38 Chromosome 11, 68938355: 68938355
37 AARS NM_001605.2(AARS): c.2333A> C (p.Glu778Ala) single nucleotide variant Pathogenic rs797044801 GRCh38 Chromosome 16, 70254688: 70254688

Copy number variations for Charcot-Marie-Tooth Disease from CNVD:

7 (show all 19)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15789 1 11962824 11996159 Copy number MFN2 Charcot-marie-tooth disease
2 16677 1 129927668 130016331 Copy number RAB7 Charcot-marie-tooth disease
3 21558 1 159541148 159546386 Copy number MPZ Charcot-marie-tooth disease
4 44856 10 64241762 64248933 Copy number EGR2 Charcot-marie-tooth disease
5 61129 11 95205693 95297019 Copy number MTMR2 Charcot-marie-tooth disease
6 63372 12 118100977 118116934 Copy number HSPB8 Charcot-marie-tooth disease
7 64536 12 129300000 133851895 Heterozygous duplication PMP22 Charcot-marie-tooth disease
8 97625 16 11549356 11588823 Copy number LITAF Charcot-marie-tooth disease
9 106965 17 10700000 16000000 Duplication PMP22 Charcot-marie-tooth disease
10 107010 17 11200000 22100000 Duplication,deletion PMP22 Charcot-marie-tooth disease
11 107372 17 15073820 15109369 Copy number PMP22 Charcot-marie-tooth disease
12 107373 17 15073820 15109369 Deletion PMP22 Charcot-marie-tooth disease
13 107542 17 15900000 22100000 Microdeletion Charcot-marie-tooth disease
14 109385 17 25800000 31800000 Amplification PMP22 Charcot-marie-tooth disease
15 195048 5 147909892 148422930 Copy number SH3TC2 Charcot-marie-tooth disease
16 228313 7 75769858 75771546 Copy number HSPB1 Charcot-marie-tooth disease
17 237596 8 24864385 24870043 Copy number NEFL Charcot-marie-tooth disease
18 242862 8 75425172 75441890 Copy number GDAP1 Charcot-marie-tooth disease
19 264803 X 70351786 70361777 Copy number GJB1 Charcot-marie-tooth disease

Expression for Charcot-Marie-Tooth Disease

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease.

Pathways for Charcot-Marie-Tooth Disease

Pathways related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease

Biological processes related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.32 EGR2 PMP22
2 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
3 negative regulation of endocytosis GO:0045806 9.16 LRSAM1 MTMR2
4 response to unfolded protein GO:0006986 9.13 DNAJB2 HSPB1 MFN2
5 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Molecular functions related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.35 AARS DYNC1H1 IGHMBP2 MARS TRPV4
2 tRNA binding GO:0000049 8.8 AARS IGHMBP2 MARS

Sources for Charcot-Marie-Tooth Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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