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Charcot–Marie–Tooth disease

From Wikipedia
Charcot–Marie–Tooth disease
designated intractable/rare disease, rare disease, class of disease
Subclass ofhereditary motor and sensory neuropathy, neuromuscular disease, monogenic disease, disease Edit
Dem name afterJean-Martin Charcot, Pierre Marie, Howard Henry Tooth Edit
Has causemutation Edit
Health specialtyneurology Edit
Medical examinationgenetic testing, neurological diagnostic techniques, electromyography Edit
Possible treatmentunknown, physiotherapy Edit
Genetic associationPMP22, GJB1, MPZ Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/3773 Edit
ICD-9-CM356.1 Edit
NCI Thesaurus IDC75467 Edit

Charcot–Marie–Tooth disease (CMT) be an inherited neurological disorder wey dey affect de peripheral nerves responsible for transmitting signals between de brain, spinal cord, den de rest of de body.[1]

Dis be de most common inherited neuropathy wey dey cause sensory den motor symptoms of numbness, tingling, weakness den muscle atrophy, pain, den progressive foot deformities over time. Insyd sam cases, CMT sanso dey affect nerves wey dey control automatic bodily functions like sweating den balance. Symptoms typically dey start insyd de feet den legs before spreading to de hands den arms. While sam individuals dey experience minimal symptoms, odas fi face significant physical limitations. Der be no cure give CMT; however, treatments such as physical therapy, orthopedic devices, surgery, den medications fi help manage symptoms den improve quality of life.[2]

CMT be caused by mutations insyd over 100 different genes, wich dey disrupt de function of nerve cells dema axons (responsible for transmitting signals) den dema myelin sheaths (wich dey insulate den accelerate signal transmission). Wen dese components be damaged, nerve signal transmission dey slow down anaa cam be impaired, wey dey lead to problems plus muscle control den sensory feedback. Na dem discover de condition insyd 1886 by Doctors Jean-Martin Charcot den Pierre Marie of France den Howard Henry Tooth of de United Kingdom.[2]

Dis disease be de most commonly inherited neurological disorder, wey dey affect approximately one insyd 2,500 people.[3][4]

Public figures plus CMT

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  • US country music singer Alan Jackson. Na dem definitively diagnose Jackson insyd ein early 50s.[5]
  • US actor Julie Newmar. She play de original Catwoman insyd de 1960s Batman television series.[6]
  • US Paralympic cyclist Anthony Zahn. He win a bronze medal at de 2008 Beijing Paralympic Games.[7]
  • UK cultural den disability studies academic Professor George McKay. Ein books dey include Shakin' All Over: Popular Music and Disability (2014).[8]
  • US actress Isabelle Tate die of de disease insyd 2025. [9]

References

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  1. Murphy, Sinead M.; Laura, Matilde; Fawcett, Katherine; Pandraud, Amelie; Liu, Yo-Tsen; Davidson, Gabrielle L.; Rossor, Alexander M.; Polke, James M.; Castleman, Victoria; Manji, Hadi; Lunn, Michael P. T.; Bull, Karen; Ramdharry, Gita; Davis, Mary; Blake, Julian C. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry (in English). 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
  2. 2.0 2.1 "Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov (in English). Retrieved 2025-04-11.
  3. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (July 2000). "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A". Brain. 123 (7): 1516–1527. doi:10.1093/brain/123.7.1516. PMID 10869062.
  4. Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease at eMedicine
  5. "Country star Alan Jackson reveals balance issues are related to health condition". TODAY.com (in English). 2021-09-28. Retrieved 2025-11-09.
  6. "Actress shares her story about having CMT | ABC7 Los Angeles | abc7.com". ABC7 Los Angeles (in English). Retrieved 2025-11-09.
  7. Price, Jill (2020-01-12). "Celebrities with CMT Help to Raise Awareness and Inspire Others" (in American English). Retrieved 2025-11-09.
  8. "On using a walking stick for the first time – GEORGE McKAY professor writer musician" (in British English). Retrieved 2025-11-09.
  9. "What is Charcot-Marie-Tooth disease? 911 Nashville actor Isabelle Tate's cause of death explained - Yahoo News UK". Yahoo News (in British English). 2025-10-25. Retrieved 2025-11-07.
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