Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Abstract

Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide. Summary: A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway. Key Messages: This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

“…In this population, the proportion of axonal CMT was higher than that of demyelinating CMT, and among the patients with CMT a molecular diagnosis could be made for 55% of the cases. A recent systematic review on the epidemiology of CMT identified 103 potentially relevant studies, but only 12 studies met the inclusion criteria and 10 studies reported on CMT prevalence [20]. Indeed, population-based studies on the epidemiology of inherited polyneuropathies are quite few [14,21,22,23] and many of them preceded the era of modern molecular diagnostics [24,25].…”

“…The prevalence of CMT in Northern Ostrobothnia was 2.5-fold higher than the median prevalence in the 10 studies included in a systematic review [20]. In 5 studies, the prevalence was in the vicinity of 10/100,000.…”

Structure, function, and regulation of mitofusin‐2 in health and disease

“…Worldwide, the frequency of CMT is 1 in 2500, and over the past decade, more than 40 causative genes have been identified (Barreto et al, 2016). Patients with CMT vary in severity of the disease presentation ranging from moderate physical disability to severe progressive muscle weakness (Zuchner & Vance, 2006).…”

Fits, feet and HIV: lessons from a case of coexisting epilepsy and neuropathy in a patient with perinatally acquired HIV-1 infection

“…CMT is a demyelinating peripheral neuropathy characterised by distal muscle weakness, atrophy and sensory loss, frequently associated with foot deformity and foot drop,3 and affects approximately 10–80 per 100 000 individuals worldwide and 12 per 100 000 individuals in England 4. Individuals usually develop symptoms between 5 and 25 years.…”