Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Jun 14;9(6):e029240.
doi: 10.1136/bmjopen-2019-029240.

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

Alice Theadom  1 , Richard Roxburgh  2 , Erin MacAulay  2 , Gina O'Grady  2 , Joshua Burns  3 , Priya Parmar  1 , Kelly Jones  1 , Miriam Rodrigues  2   4 ; Impact CMT Research Group
Collaborators, Affiliations

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

Alice Theadom et al. BMJ Open. .

Abstract

Objectives: This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources.

Design: Point-prevalence epidemiological study in the Auckland Region of New Zealand (NZ).

Setting: Multiple case ascertainment sources including primary care centres, hospital services, neuromuscular disease registry, community-based organisations and self-referral were used to identify potentially eligible participants.

Participants: Adults (≥16 years, n=207, 87.7%) and children (<16 years, n=29, 12.3%) with a confirmed clinical or molecular diagnosis of CMT, hereditary sensory neuropathy, hereditary motor neuropathy or hereditary neuropathy with liability to pressure palsies who resided in the Auckland Region of NZ on 1 June 2016.

Primary outcome: Prevalence per 100 000 persons with 95% CIs by subtype, age and sex were calculated and standardised to the world population.

Results: Age-standardised point prevalence of all CMT cases was 15.7 per 100 000 (95% CI 11.6 to 21.0). Highest prevalence was identified in those aged 50-64 years 25.2 per 100 000 (95% CI 19.4 to 32.6). Males had a higher prevalence (16.6 per 100 000, 95% CI 10.9 to 25.2) than females (14.6 per 100 000, 95% CI 9.6 to 22.4). Prevalence of CMT1A was 6.9 per 100 000 (95% CI 5.6 to 8.4). The majority (93.2%) of cases were identified through medical records, with 6.8% of cases uniquely identified through community sources.

Conclusions: A small but significant proportion of people with CMT are not connected to healthcare services. Epidemiological studies using medical records alone to identify cases may risk underestimating prevalence. Further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.

Keywords: charcot-marie-tooth disease; cmt; epidemiology; hereditary neuropathy; registries.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Map of New Zealand showing location of Auckland Region in the North Island of New Zealand (shaded).
Figure 2
Figure 2
Participant flow diagram. CMT, Charcot-Marie-Tooth disease; GP, general practitioner.
Figure 3
Figure 3
Multiple case ascertainment by all source types. NZ, New Zealand.
See this image and copyright information in PMC

References

    1. Hoyle JC, Isfort MC, Roggenbuck J, et al. . The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management. Appl Clin Genet 2015;8:235–43. 10.2147/TACG.S69969 - DOI - PMC - PubMed
    1. Klein CJ, Duan X, Shy ME. Inherited neuropathies: clinical overview and update. Muscle Nerve 2013;48:604–22. 10.1002/mus.23775 - DOI - PMC - PubMed
    1. Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes 2014;5:13–32. 10.3390/genes5010013 - DOI - PMC - PubMed
    1. Barreto LC, Oliveira FS, Nunes PS, et al. . Epidemiologic Study of Charcot-Marie-Tooth Disease: a systematic review. Neuroepidemiology 2016;46:157–65. 10.1159/000443706 - DOI - PubMed
    1. Redmond AC, Burns J, Ouvrier RA. Factors that influence health-related quality of life in Australian adults with Charcot-Marie-Tooth disease. Neuromuscul Disord 2008;18:619–25. 10.1016/j.nmd.2008.05.015 - DOI - PubMed

Publication types