Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence

Vaeth, Signe; Væth, Michael; Andersen, Henning; Christensen, Rikke; Jensen, Uffe Birk

doi:10.1136/bmjopen-2017-018048

Cited by 13 publications

(14 citation statements)

References 19 publications

(33 reference statements)

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“…The age-standardized prevalence of CMT in 2018 was slightly higher in men than in women, confirming previous results [11,17]. The prevalence in men was higher at all ages but was especially higher in men than in women aged 15-35 years.…”

Section: Discussion/conclusionsupporting

confidence: 87%

“…Determinations of age-specific SMR showed that the mortality rate was particularly high in children diagnosed with CMT at a young age. A similar finding was reported in a study performed in Denmark, the only previous study investigating the age-specific mortality of CMT patients [11]. Moreover, patients with Déjerine-Sottas disease, a type of early-onset CMT, showed severe disability and poor prognosis [21].…”

Section: Discussion/conclusionsupporting

confidence: 84%

“…The discrepancy of prevalence among different countries is probably due to the methodology. For example, the Danish cohort used the ICD code and matched it to the tertiary centers only, excluding patients diagnosed with a second diagnosis or patients diagnosed at departments that are not specialized [11]. The Japanese cohort used information in registered records and questionnaires in the specific regions of Japan [10].…”

Section: Discussion/conclusionmentioning

confidence: 99%

“…Although the number of CMT patients aged < 15 years has remained constant, the number of those aged > 15 years has continued to increase every year, mainly because of the definition of CMT prevalence and relatively short period (14 years) of data collection. An estimate of CMT prevalence using data collected for 35 years [11] indicated that all CMT patients had not been diagnosed in Korea. Additionally, the observed increase in prevalence may be partly due to recent advances in molecular diagnosis, including next-generation sequencing, a method that has increased the rate of diagnosis among asymptomatic or mildly affected patients without a family history of CMT [15,16].…”

Section: Discussion/conclusionmentioning

confidence: 99%

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Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study

Park

Choi

et al. 2020

Neuroepidemiology

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Background: Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous disorders that primarily affect the peripheral nervous system. Epidemiological studies of CMT have not yet been performed in Korea. Objectives: This study was performed to estimate the prevalence of CMT in Korea and the socioeconomic status, mortality, and causes of death of Korean patients with CMT. Methods: Data on patients with CMT were obtained from the rare intractable disease registry and the National Health Insurance Service for the years 2005–2018. Results: During the study period, 2,885 CMT patients were enrolled. The prevalence per 100,000 persons in 2018 was 5.2 (6.1 for men and 4.4 for women), peaking at ages 15–39 years, with almost twice as many men (n = 714) as women (n = 402) in this age group. Of the CMT patients, 226 (7.8%) were receiving medical aid, a public assistance program targeting poor individuals, at the time of diagnosis and 253 (8.8%) at last follow-up or death. From 2005 to 2017, 170 patients died, including 118 men and 52 women. The standardized mortality ratio (SMR) was 1.57 (95% CI 1.34–1.83) for all patients and did not differ in men and women. Age-specific SMR was highest in patients aged under 9 years, gradually declining thereafter. Neurologic disease as a cause of death was significantly more frequent in CMT patients than in the general population. Conclusions: This was the first nationwide epidemiologic study of CMT patients in Korea. This study confirmed the characteristics associated with the prevalence of and mortality from CMT by age and is the first to report the socioeconomic status and causes of death of CMT patients.

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Section: Discussion/conclusionsupporting

confidence: 87%

Section: Discussion/conclusionsupporting

confidence: 84%

Section: Discussion/conclusionmentioning

confidence: 99%

Section: Discussion/conclusionmentioning

confidence: 99%

See 2 more Smart Citations

Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study

Park

Choi

et al. 2020

Neuroepidemiology

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“…Attempts to determine the prevalence of CMT have yielded in a range of estimates from different places in the world-from 9.7 per 100,000 in Serbia, to 82.3 per 100,000 in Norway and 22.5 per 100,000 in Denmark [2]. The prevalence of the disease subtype is known to vary by region as well, with CMT type 1A being most common in Western regions and the other forms more frequent in the Asian population [3].…”

Section: Introductionmentioning

confidence: 99%

Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family

Nusrat

Mahmood

Raza

et al. 2019

Cureus

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Charcot-Marie-Tooth (CMT) disease, also referred to as hereditary motor and sensory neuropathy (HMSN), is a heterogeneous group of disorders which primarily affects the peripheral nervous system. Clinically, the main features are progressive muscle weakness seen distally, along with wasting seen predominantly in the anterior compartments of the lower legs. The disease can broadly be classified into two groups, CMT1 and CMT2-based on inheritance patterns, paired with anatomical or electrophysiological findings. It can be inherited in the autosomal dominant, X-linked and rarely, the autosomal recessive fashions. Here, we present an unusual case of autosomal recessive CMT disease, in four out of six children of unaffected parents in a family.

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Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes

Michaelidou

Tsiverdis

Erimaki

et al. 2020

Molec Gen & Gen Med

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Background: Charcot-Marie-Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results: Three patients with polyneuropathy suspected to be genetic in origin, but not harboring PMP22 gene deletion/duplication, were offered WES. The first patient, a 66-year-old man, had been suffering from progressive weakness and atrophies in the lower and upper extremities for 20 years. Due to ambiguous electrophysiological findings, immune therapies were administered to no avail. Twelve years after PMP22 deletion/duplication testing, WES revealed two pathogenic variants in the FIG4 gene (p.Ile41Thr and p.Phe598fs, respectively), as a cause of CMT 4J. The second patient, a 19-year-old man, had been suffering from hearing and gait impairment since at least his infancy, and recently presented with weakness and dystonia of the lower extremities. In this patient, WES identified the p.Leu122Val LITAF gene variant in heterozygous state, suggesting the diagnosis of CMT 1C, several years after initial genetic analyses. The third patient, a 44-year-old man, presented with progressive weakness and atrophies of the lower and upper extremities since the age of 17 years old. In this patient, WES identified the hemizygous p.Arg164Gln pathogenic variant in the GJB1 gene, establishing the diagnosis of CMT X1, 8 years after testing for PMP22 deletion/duplication. Conclusion: Novel diagnostic techniques, such as WES, offer the possibility to decipher the cause of CMT subtypes, ending the diagnostic Odyssey of the patients and sparing them from unnecessary and potentially harmful treatments.

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Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence

Cited by 13 publications

References 19 publications

Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study

Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study

Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family

Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes

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