What is the prevalence of Charcot-Marie-Tooth (CMT) disease?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, PhD, MSc, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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In the United States CMT is the most common inherited neurologic disorder, affecting approximately 150,000 Americans (1 CMT/2500 inhabitants). Estimates of the frequency of each CMT subtype in the United States are variable. [8]

Internationally, CMT is among the most common heritable neurologic disorders. An exhaustive Norwegian study indicated a prevalence of 36 cases per 100,000 population, [9]  whereas a worldwide meta-analysis estimated a prevalence of 10 cases per 100,000 population. [8]  A Japanese epidemiologic study demonstrated an incidence of 10.8 cases per 100,000 population. [10]

A Finnish study of 435,000 individuals found a prevalence of 16 cases per 100,000 population for HNPP and 20 cases per 100,000 population for CMT in general, indicating that HNPP is not rare. [11] Because both diseases result from unequal crossover during meiosis, similar epidemiologic data are not surprising. Conditions associated with reduced PMP22 expression are underdiagnosed because of the variable phenotype, the insidious nature of the disease, and the many mildly affected patients.

Overall, CMT1A accounts for about 60% of all autosomal dominant neuropathies, CMT2 accounts for about 22%, X-linked Charcot-Marie Tooth disease (CMTX) for about 16%, and CMT1B for approximately 1.6%. The other forms are rarer, except in populations with high consaguinity, where AR phenotypes are significantly more common.

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