Charcot–Marie–Tooth disease

Charcot-Marie-Tooth disease
Other namesCharcot-Marie-Tooth neuropathy, peroneal muscular atrophy, Dejerine-Sottas syndrome
The foot of a person with Charcot-Marie-Tooth disease: the lack of muscle, a high arch, and claw toes are signs of this genetic disease.
Pronunciation
  • [ʃaʁko maʁi tuːθ]
SpecialtyNeurology, podiatry, orthopedics, physical medicine and rehabilitation
Symptomscommon: high-arched feet, hammertoe, foot drop, high-stepping gait, weakness, stiffness, and muscle wasting of lower legs, arm, and hands, and reduced tendon reflexes. sometimes: flat-arched feet, spinal deformities.[1][2]
Usual onsetchildhood – early adulthood
Durationlifelong
Causesfamily history (genetics)
Risk factorsfamily history (genetics)
Diagnostic methodgenetic testing, nerve conduction study or electromyogram (EMG)
Differential diagnosismuscular dystrophy
Treatmentmanagement to maintain function
Prognosisprogressive
Frequencyprevalence: 1 in 2,500[3][4]

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body.[5]

This is the most common inherited neuropathy that causes sensory and motor symptoms of numbness, tingling, weakness and muscle atrophy, pain, and progressive foot deformities over time. In some cases, CMT also affects nerves controlling automatic bodily functions like sweating and balance. Symptoms typically start in the feet and legs before spreading to the hands and arms. While some individuals experience minimal symptoms, others may face significant physical limitations. There is no cure for CMT; however, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life.[6]

CMT is caused by mutations in over 100 different genes, which disrupt the function of nerve cells' axons (responsible for transmitting signals) and their myelin sheaths (which insulate and accelerate signal transmission). When these components are damaged, nerve signal transmission slows down or becomes impaired, leading to problems with muscle control and sensory feedback. The condition was discovered in 1886 by Doctors Jean-Martin Charcot and Pierre Marie of France and Howard Henry Tooth of the United Kingdom.[6]

This disease is the most commonly inherited neurological disorder, affecting approximately one in 2,500 people.[7][8]

  1. ^ Szigeti K, Lupski JR (2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
  2. ^ Nagappa M, Sharma S, Taly AB (2024), "Charcot-Marie-Tooth Disease", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32965834, retrieved 2024-09-20
  3. ^ Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, et al. (June 2016). "Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease". JAMA Neurology. 73 (6): 645–651. doi:10.1001/jamaneurol.2016.0171. PMC 4916861. PMID 27043305.
  4. ^ Skre H (August 1974). "Genetic and clinical aspects of Charcot-Marie-Tooth's disease". Clinical Genetics. 6 (2): 98–118. doi:10.1111/j.1399-0004.1974.tb00638.x. PMID 4430158.
  5. ^ Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry. 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
  6. ^ a b "Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2025-04-11.
  7. ^ Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. (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.
  8. ^ Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease at eMedicine
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