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Charcot–Marie–Tooth disease

charcot–marie–tooth disease pictures, charcot–marie–tooth disease
Charcot–Marie–Tooth disease CMT is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people12 CMT was previously classified as a subtype of muscular dystrophy1


  • 1 Signs and symptoms
  • 2 Causes
  • 3 Diagnosis
    • 31 Histology
  • 4 Classification
  • 5 Management
  • 6 Prognosis
  • 7 History
  • 8 Media
  • 9 Notable people with CMT
  • 10 See also
  • 11 References
  • 12 External links

Signs and symptomsedit

Symptoms of CMT usually begin in early childhood or early adulthood, but can begin later Some people do not experience symptoms until their early thirties or forties Usually, the initial symptom is foot drop early in the course of the disease This can also cause hammer toe, where the toes are always curled Wasting of muscle tissue of the lower parts of the legs may give rise to a "stork leg" or "inverted champagne bottle" appearance Weakness in the hands and forearms occurs in many people as the disease progresses

Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease Early and late onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates High-arched feet pes cavus or flat-arched feet pes planus are classically associated with the disorder3 Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping

Symptoms and progression of the disease can vary Involuntary grinding of teeth as well as squinting are prevalent and often go unnoticed by the person affected Breathing can be affected in some; so can hearing, vision, as well as the neck and shoulder muscles Scoliosis is common, causing hunching and loss of height Hip sockets can be malformed Gastrointestinal problems can be part of CMT,45 as can difficulty chewing, swallowing, and speaking due to atrophy of vocal cords6 A tremor can develop as muscles waste Pregnancy has been known to exacerbate CMT, as well as severe emotional stress Patients with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury as prolonged periods of limited mobility can drastically accelerate symptoms of CMT7

Pain due to postural changes, skeletal deformations, muscle fatigue and cramping is fairly common in people with CMT It can be mitigated or treated by physical therapies, surgeries, and corrective or assistive devices Analgesic medications may also be needed if other therapies do not provide relief from pain8 Neuropathic pain is often a symptom of CMT, though, like other symptoms of CMT, its presence and severity varies from case to case For some people, pain can be significant to severe and interfere with daily life activities However, pain is not experienced by all people with CMT When neuropathic pain is present as a symptom of CMT, it is comparable to that seen in other peripheral neuropathies, as well as postherpetic neuralgia and complex regional pain syndrome, among other diseases9


Chromosome 17

Charcot–Marie–Tooth disease is caused by mutations that cause defects in neuronal proteins Nerve signals are conducted by an axon with a myelin sheath wrapped around it Most mutations in CMT affect the myelin sheath, but some affect the axon

The most common cause of CMT 70–80% of the cases is the duplication of a large region on the short arm of chromosome 17 that includes the gene PMP22 Some mutations affect the gene MFN2, which codes for a mitochondrial protein Cells contain separate sets of genes in their nucleus and in their mitochondria In nerve cells, the mitochondria travel down the long axons In some forms of CMT, mutated MFN2 causes the mitochondria to form large clusters, or clots, which are unable to travel down the axon towards the synapses This prevents the synapses from functioning10

CMT is divided into the primary demyelinating neuropathies CMT1, CMT3, and CMT4 and the primary axonal neuropathies CMT2, with frequent overlap Another cell involved in CMT is the Schwann cell, which creates the myelin sheath, by wrapping its plasma membrane around the axon11

Neurons, Schwann cells, and fibroblasts work together to create a functional nerve Schwann cells and neurons exchange molecular signals that regulate survival and differentiation These signals are disrupted in CMT11

Demyelinating Schwann cells causes abnormal axon structure and function They may cause axon degeneration, or they may simply cause axons to malfunction1

The myelin sheath allows nerve cells to conduct signals faster When the myelin sheath is damaged, nerve signals are slower, and this can be measured by a common neurological test, electromyography When the axon is damaged, on the other hand, this results in a reduced compound muscle action potential CMAP12


CMT can be diagnosed through symptoms, through measurement of the speed of nerve impulses nerve conduction studies, through biopsy of the nerve, and through DNA testing DNA testing can give a definitive diagnosis, but not all the genetic markers for CMT are known CMT is first noticed when someone develops lower leg weakness, such as foot drop; or foot deformities, including hammertoes and high arches But signs alone do not lead to diagnosis Patients must be referred to a physician specialising in neurology or rehabilitation medicine To see signs of muscle weakness, the neurologist asks patients to walk on their heels or to move part of their leg against an opposing force To identify sensory loss, the neurologist tests for deep tendon reflexes, such as the knee jerk, which are reduced or absent in CMT The doctor also asks about family history, because CMT is hereditary The lack of family history does not rule out CMT, but helps rule out other causes of neuropathy, such as diabetes or exposure to certain chemicals or drugs13

In 2010, CMT was one of the first diseases where the genetic cause of a particular patient's disease was precisely determined by sequencing the whole genome of an affected individual This was done by the scientists employed by the Charcot Marie Tooth Association CMTA1415 Two mutations were identified in a gene, SH3TC2, known to cause CMT Researchers then compared the affected patient's genome to the genomes of the patient's mother, father, and seven siblings with and without the disease The mother and father each had one normal and one mutant copy of this gene, and had mild or no symptoms The offspring that inherited two mutant genes presented fully with the disease


Denervation atrophy of Type II muscle fibres

The constant cycle of demyelination and remyelination, which occurs in CMT, can lead to the formation of layers of myelin around some nerves, termed an "onion bulb" These are also seen in chronic inflammatory demyelinating polyneuropathy CIDP16 Muscles show fiber type grouping, a similarly non-specific finding that indicates a cycle of denervation/reinnervation Normally, type I and type II muscle fibers show a checkerboard-like random distribution However, when reinnervation occurs, the group of fibers associated with one nerve are of the same type The standard for indicating fiber type is histoenzymatic adenosine triphosphatase ATPase at pH 9417


Further information: Charcot–Marie–Tooth disease classifications

CMT is a result of genetic mutations in a number of genes18 Based on the affected gene, CMT can be categorized into types and subtypes15


Ankle-foot orthosis

Often the most important goal for patients with CMT is to maintain movement, muscle strength, and flexibility Therefore, an interprofessional team approach with occupational therapy, physical therapy, orthotist, podiatrist and or orthopedic surgeon is recommended19 PT typically focuses on muscle strength training, muscle, and ligament stretching while OT can provide education on energy conservation strategies and moderate aerobic exercise in activities of daily living A Physical therapy should be involved in designing an exercise program that fits a person's personal strengths and flexibility Bracing can also be used to correct problems caused by CMT An orthotist may address gait abnormalities by prescribing the use of ankle-foot orthoses AFOs These orthoses help control foot drop and ankle instability and often provide a better sense of balance for patients Appropriate footwear is also very important for people with CMT, but they often have difficulty finding well-fitting shoes because of their high arched feet and hammer toes Due to the lack of good sensory reception in the feet, CMT patients may also need to see a podiatrist for help in trimming nails or removing calluses that develop on the pads of the feet A final decision a patient can make is to have surgery Using a podiatrist or an orthopedic surgeon, patients can choose to stabilize their feet or correct progressive problems These procedures include straightening and pinning the toes, lowering the arch, and sometimes, fusing the ankle joint to provide stability7 CMT patients must take extra care to avoid falling because fractures take longer to heal in someone with an underlying disease process Additionally, the resulting inactivity may cause the CMT to worsen7

The Charcot-Marie-Tooth Association classifies the chemotherapy drug vincristine as a "definite high risk" and states that "vincristine has been proven hazardous and should be avoided by all CMT patients, including those with no symptoms"20

There are also several corrective surgical procedures that can be done to improve physical condition21


The severity of symptoms vary widely even for the same type of CMT There have been cases of monozygotic twins with varying levels of disease severity, showing that identical genotypes are associated with different levels of severity see penetrance Some patients are able to live a normal life and are almost or entirely asymptomatic22 A 2007 review stated that "Life expectancy is not known to be altered in the majority of cases"23


Jean-Martin Charcot Pierre Marie Howard Henry Tooth

The disease is named after those who classically described it: Jean-Martin Charcot 1825–1893, his pupil Pierre Marie 1853–1940 "Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains" Revue médicale Paris 6: 97–138 1886 , and Howard Henry Tooth 1856–1925 "The peroneal type of progressive muscular atrophy", dissertation, London, 1886


There is a documentary titled Bernadette that follows a young woman battling the disease It was made in 2012 and is currently sold online24

A 2011 episode of Mystery Diagnosis featured a young girl who was eventually diagnosed with Charcot–Marie–Tooth disease25

Notable people with CMTedit

  • Victor Bailey musician26
  • William Lane Craig
  • Todd MacCulloch
  • Julie Newmar

See alsoedit

  • Palmoplantar keratoderma and spastic paraplegia
  • Hereditary motor and sensory neuropathies
  • Hereditary motor neuropathies
  • Low copy repeats
  • Christina's World


  1. ^ a b c Krajewski, K M 2000 "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A" Brain 123 7: 1516–27 PMID 10869062 doi:101093/brain/12371516 
  2. ^ "Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease: Background, Pathophysiology, Epidemiology" Emedicinemedscapecom Retrieved 2016-11-13 
  3. ^ Le, Tao; Bhushan, Vikas 6 January 2014 First Aid for the USMLE Step 1 2014 McGraw-Hill Education ISBN 9780071831420 Retrieved 4 September 2014 Typically autosomal dominant inheritance pattern associated with scoliosis and foot deformities high or flat arches 
  4. ^ "CMT News" Lindacrabtreecom Retrieved 2016-11-13 
  5. ^ Soykan I, McCallum RW January 1997 "Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth syndromes" The American Journal of the Medical Sciences 313 1: 70–73 PMID 9001170 doi:101097/00000441-199701000-00012 
  6. ^ "Charcot-Marie-Tooth Disease Fact Sheet" Nindsnihgov 2016-01-14 Retrieved 2016-11-13 
  7. ^ a b c "Treatment and Management of CMT" Press release Charcot-Marie-Tooth Association October 6, 2010 Retrieved August 26, 2011 
  8. ^ "Charcot-Marie-Tooth Syndrome CMT information" Patient 
  9. ^ Carter, Gregory T; Jensen, Mark P; Galer, Bradley S; Kraft, George H; Crabtree, Linda D; Beardsley, Ruth M; Abresch, Richard T; Bird, Thomas D 1998 "Neuropathic pain in Charcot-Marie-tooth disease" Archives of Physical Medicine and Rehabilitation 79 12: 1560–64 PMID 9862301 doi:101016/S0003-99939890421-X 
  10. ^ Baloh, R H; Schmidt, R E; Pestronk, A; Milbrandt, J 2007 "Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations" Journal of Neuroscience 27 2: 422–30 PMID 17215403 doi:101523/JNEUROSCI4798-062007 
  11. ^ a b Berger, Philipp; Young, Peter; Suter, Ueli 2002 "Molecular cell biology of Charcot-Marie-Tooth disease" Neurogenetics 4 1: 1–15 PMID 12030326 doi:101007/s10048-002-0130-z 
  12. ^ Yiu, Eppie M; Burns, Joshua; Ryan, Monique M; Ouvrier, Robert A 2008 "Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A" Journal of the Peripheral Nervous System 13 3: 236–41 PMID 18844790 doi:101111/j1529-8027200800182x 
  13. ^ "Archived copy" Archived from the original on 2010-02-27 Retrieved 2010-11-03 
  14. ^ Wade, Nicholas 2010-03-10 "Disease Cause Is Pinpointed With Genome" New York Times 
  15. ^ a b Lupski, James R; Reid, Jeffrey G; Gonzaga-Jauregui, Claudia; Rio Deiros, David; Chen, David CY; Nazareth, Lynne; Bainbridge, Matthew; Dinh, Huyen; et al 2010 "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy" New England Journal of Medicine 362 13: 1181–91 PMID 20220177 doi:101056/NEJMoa0908094 
  16. ^ Midroni, Gyl; Bilbao, Juan M; with the technical assistance of Cohen, Sandra M 1995 Biopsy diagnosis of peripheral neuropathy Boston: Butterworth-Heinemann pp 75–103 ISBN 9780750695527 
  17. ^ Dubowitz, Victor; Sewry, Caroline A; toxic, Anders Oldfors ; with contribution on; Lane, drug-induced myopathies by Russell 2013 Muscle biopsy : a practical approach Fourth edition ed Philadelphia: Saunders/Elsevier ISBN 0702043400 
  18. ^ Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD 2015 The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management Appl Clin Genet 8 :235-43 doi:102147/TACGS69969 PMID 26527893
  19. ^ "Charcot-Marie-Tooth Disease Fact Sheet | National Institute of Neurological Disorders and Stroke" wwwnindsnihgov Retrieved 24 July 2017 
  20. ^ "Archived copy" Archived from the original on 2007-07-02 Retrieved 2007-08-21 
  21. ^ Anand N, Levine, DB, Burke S, Bansal M Neuopathic spinal atrophy in Charcot-Marie-Tooth disease J Bone Joint Surg 1997; 79-A:1235–39
  22. ^ Pareyson, Davide; Marchesi, Chiara 2009-07-01 "Diagnosis, natural history, and management of Charcot-Marie-Tooth disease" The Lancet Neurology 8 7: 654–667 ISSN 1474-4422 PMID 19539237 doi:101016/S1474-44220970110-3 
  23. ^ Aboussouan, Loutfi S; Lewis, Richard A; Shy, Michael E 2007-02-09 "Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease" Lung 185 1: 1–7 ISSN 0341-2040 doi:101007/s00408-006-0053-9 
  24. ^ Bernadette on IMDb
  25. ^ Simple Symptoms Turn Threatening on IMDb
  26. ^ "Victor Bailey Battling Muscular Dystrophy" No Treble 

External linksedit

  • ICD-10: G600
  • ICD-9-CM: 3561
  • OMIM: 311860 611566 311070 311850 X Type 5
    302800 304040 X Type 1
  • MeSH: D002607
  • DiseasesDB: 5815
External resources
  • MedlinePlus: 000727
  • eMedicine: orthoped/43 pmr/29
  • GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy OverviewCharcot-Marie-Tooth Neuropathy Type 1Charcot-Marie-Tooth Neuropathy X Type 5Charcot-Marie-Tooth Neuropathy X Type 1GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy Type 2D, Distal Spinal Muscular Atrophy V

  • Charcot–Marie–Tooth disease at DMOZ

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