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A meta-analysis on the prevalence of Charcot–Marie–Tooth disease and related inherited peripheral neuropathies

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Abstract

Background

Charcot–Marie–Tooth disease and related inherited peripheral neuropathies (CMT&RIPNs) brings great suffering and heavy burden to patients, but its global prevalence rates have not been well described.

Methods

We searched major English and Chinese databases for studies reporting the prevalence of CMT&RIPNs from the establishment of the databases to September 26, 2022. Based on the age, gender, study design, study region, and disease subtype, the included studies were correspondingly synthesized for meta-analyses on the overall prevalence and/or the subgroup analyses by using pool arcsine transformed proportions in the random-effects model.

Results

Of the finally included 31 studies, 21 studied the whole age population and various types of CMT&RIPNs, and the others reported specific disease subtype(s) or adult or non-adult populations. The pooled prevalence was 17.69/100,000 (95% CI 12.32–24.33) for the whole age population and significantly higher for CMT1 [10.61/100,000 (95% CI 7.06–14.64)] than for other subtypes (P’ < 0.001). Without statistical significance, the prevalence seemed higher in those aged ≥ 16 or 18 years (21.02/100,000) than in those aged < 16 years (16.13/100,000), in males (22.50/100,000) than in females (17.95/100,000), and in Northern Europe (30.97/100,000) than in other regions.

Conclusion

CMT&RIPNs are relatively more prevalent as CMT1 in the disease subtypes, and probably prevalent in older ages, males, and Northern Europe. More studies on the epidemiological characteristics of CMT&RIPNs with well-defined diagnosis criteria are needed to improve the prevalence evaluation and to arouse more attention to health care support.

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Data availability

All manuscript-related data are available from the corresponding author on reasonable request.

Abbreviations

CIs:

Confidence intervals (CIs)

CMT:

Charcot–Marie–Tooth disease

CMT1:

Charcot–Marie–Tooth disease type 1

CMT2:

Charcot–Marie–Tooth disease type 2

CMT&RIPNs:

Charcot–Marie–Tooth disease and related inherited peripheral neuropathies

dHMN or HMN:

Distal hereditary motor neuropathies

EMG:

Electromyography

ICD code:

International classification of diseases code

ICMT:

Intermediate Charcot–Marie–Tooth disease

MNCV:

Motor nerve conduction velocity

HMSN:

Hereditary motor and sensory neuropathy

HNPP:

Hereditary neuropathy with liability to pressure palsies

HSN or HSAN:

Hereditary sensory (and autonomic) neuropathies

N :

Number of studies

N’ :

Number of general populations

n :

Number of surviving CMT&RIPNs cases

NCS:

Nerve-conduction study

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Acknowledgements

This study was funded by the Science, Technology and Innovation Commission of Shenzhen Municipality, China (grant number JCYJ20200109142446804 to J.-C.Z.).

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Authors and Affiliations

  1. School of Public Health (Shenzhen), Shenzhen Campus of Sun Yat-sen University, Gongchang Rood 66#, Guangming District, Shenzhen, 518107, China

    Miaomiao Ma, Yao Li, Shimiao Dai, Litao Sun & Ji-Chang Zhou

  2. Department of Neurosurgery, The Third People’s Hospital of Shenzhen, Shenzhen, 518112, China

    Ming Chu

  3. Department of Epidemiology and Biostatistics, Dornsife School of Public Health, Drexel University, Philadelphia, PA, 19104, USA

    Longjian Liu

  4. Guangdong Province Engineering Laboratory for Nutrition Translation, Guangzhou, 510080, China

    Ji-Chang Zhou

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  1. Miaomiao Ma
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MM: study design, literature search, data extraction, data analysis, data visualization, and manuscript drafting. YL: literature search, data extraction, risk of bias assessment, and manuscript drafting. SD: data extraction, data analysis, manuscript drafting. J-CZ: study design, protocol writing, data analysis, manuscript drafting, and supervision of all processes. MC and LS: suggestion to study design. LL: statistic checking and manuscript revision. All authors read and approved the final manuscript.

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Correspondence to Ji-Chang Zhou.

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Ma, M., Li, Y., Dai, S. et al. A meta-analysis on the prevalence of Charcot–Marie–Tooth disease and related inherited peripheral neuropathies. J Neurol 270, 2468–2482 (2023). https://doi.org/10.1007/s00415-023-11559-8

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