TY - JOUR

T1 - Charcot-Marie-Tooth disease in Denmark

T2 - a nationwide register-based study of mortality, prevalence and incidence

AU - Væth, Signe

AU - Væth, Michael

AU - Andersen, Henning

AU - Christensen, Rikke

AU - Jensen, Uffe Birk

N1 - © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

PY - 2017/11/3

Y1 - 2017/11/3

N2 - OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark.DESIGN: We used the Danish National Patient Registry to select all records with primary diagnostic codes for CMT between 1977 and 2012 given at a neurological, neurophysiological, paediatric or clinical genetic clinic. The prevalence was estimated by 31 December 2012, and the incidence rate was calculated based on data from 1988 to 2012. We calculated a standardised mortality ratio (SMR) and an absolute excess mortality rate (AER) stratified according to age categories and disease duration.RESULTS: A total of 1534 patients (652 women) were identified. The prevalence proportion was 22.5 per 100 000 (95% CI 21.2 to 23.7) and the incidence rate was 0.98 (95% CI 0.93 to 1.04) per 100 000 person-years. The SMR was 1.36 (95% CI 1.21 to 1.53), and the AER was 4.87 per 1000 person-years (95% CI 2.77 to 6.96). We found a significantly higher SMR in cases below 50 years of age, and in cases with disease duration of more than 10 years.CONCLUSIONS: We found a reduced life expectancy among patients diagnosed with CMT. To our knowledge, this is the first study of CMT to use nationwide register-based data, and the first to report an SMR and an AER.

AB - OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark.DESIGN: We used the Danish National Patient Registry to select all records with primary diagnostic codes for CMT between 1977 and 2012 given at a neurological, neurophysiological, paediatric or clinical genetic clinic. The prevalence was estimated by 31 December 2012, and the incidence rate was calculated based on data from 1988 to 2012. We calculated a standardised mortality ratio (SMR) and an absolute excess mortality rate (AER) stratified according to age categories and disease duration.RESULTS: A total of 1534 patients (652 women) were identified. The prevalence proportion was 22.5 per 100 000 (95% CI 21.2 to 23.7) and the incidence rate was 0.98 (95% CI 0.93 to 1.04) per 100 000 person-years. The SMR was 1.36 (95% CI 1.21 to 1.53), and the AER was 4.87 per 1000 person-years (95% CI 2.77 to 6.96). We found a significantly higher SMR in cases below 50 years of age, and in cases with disease duration of more than 10 years.CONCLUSIONS: We found a reduced life expectancy among patients diagnosed with CMT. To our knowledge, this is the first study of CMT to use nationwide register-based data, and the first to report an SMR and an AER.

KW - Journal Article

U2 - 10.1136/bmjopen-2017-018048

DO - 10.1136/bmjopen-2017-018048

M3 - Journal article

C2 - 29101144

VL - 7

JO - B M J Open

JF - B M J Open

SN - 2044-6055

IS - 11

M1 - e018048

ER -