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Background <p>Charcot–Marie–Tooth disease (CMT) is a rare inherited peripheral neuropathy, and the health status of CMT patients in China is not well understood without a national disease registry system. We aimed to obtain the related epidemiological data to support effective work on CMT.</p> Methods <p>The online cross-sectional study included patients definitively diagnosed with CMT nationwide. Descriptive analyses were conducted on CMT’s disease characteristics, diagnostic results, walking condition, rehabilitation status, comorbidities, family history, etc.</p> Results <p>CMT1A, CMT2A, CMTX1, CMT2S, CMT1E, and CMT1B were the top six types accounting for 64.4% of the 523 eligible patients. <i>PMP22</i>, <i>MFN2</i>, <i>GJB1</i>, <i>MPZ</i>, <i>GDAP1</i>, and <i>IGHMBP2</i> ranked as the top six genes among the collected 44 pathogenic genes. The median ages of symptom onset and diagnosis were 7.3 and 18.7 years, respectively, with a median interval of 3.8 years between symptom onset and genetic confirmation. Only 8.3% exhibited unaffected walking speed and balance, the remaining experienced varying degrees of motor impairment, and 42.1% employed rehabilitation. Moreover, 26.8% experienced initial misdiagnosis, and 47.0% were estimated to suffer from depression. Of comorbidities complained by the 94 patients, gastrointestinal was most common (17/94) followed by hypertension (13/94), and hiatal hernia (2/94) was first reported. Family history was documented in 35.2% of the surveyed patients.</p> Conclusion <p>Chinese patients with CMT were in complicated and poor health status with predominant disease types and pathogenic genes generally as anticipated. A national CMT registry system is highly wanted to collect comprehensive information to guide further research and improve patients’ health status.</p>

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A cross-sectional survey on the health status of patients with Charcot–Marie–Tooth disease in a Chinese national patient group

  • 期刊论文

  • 发表日期：

    2025年4月8日

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  • Shimiao Dai,
  • Jiayin Zheng,
  • Yuqing Chen,
  • Junying Zhu,
  • Xinling Wang,
  • Yuxuan Peng,
  • Yuping Luo,
  • Tian Lin,
  • Yao Li,
  • Miaomiao Ma,
  • Zhan Shi,
  • Xinru Meng,
  • Litao Sun,
  • Ji-Chang Zhou

摘要

Background

Charcot–Marie–Tooth disease (CMT) is a rare inherited peripheral neuropathy, and the health status of CMT patients in China is not well understood without a national disease registry system. We aimed to obtain the related epidemiological data to support effective work on CMT.

Methods

The online cross-sectional study included patients definitively diagnosed with CMT nationwide. Descriptive analyses were conducted on CMT’s disease characteristics, diagnostic results, walking condition, rehabilitation status, comorbidities, family history, etc.

Results

CMT1A, CMT2A, CMTX1, CMT2S, CMT1E, and CMT1B were the top six types accounting for 64.4% of the 523 eligible patients. PMP22, MFN2, GJB1, MPZ, GDAP1, and IGHMBP2 ranked as the top six genes among the collected 44 pathogenic genes. The median ages of symptom onset and diagnosis were 7.3 and 18.7 years, respectively, with a median interval of 3.8 years between symptom onset and genetic confirmation. Only 8.3% exhibited unaffected walking speed and balance, the remaining experienced varying degrees of motor impairment, and 42.1% employed rehabilitation. Moreover, 26.8% experienced initial misdiagnosis, and 47.0% were estimated to suffer from depression. Of comorbidities complained by the 94 patients, gastrointestinal was most common (17/94) followed by hypertension (13/94), and hiatal hernia (2/94) was first reported. Family history was documented in 35.2% of the surveyed patients.

Conclusion

Chinese patients with CMT were in complicated and poor health status with predominant disease types and pathogenic genes generally as anticipated. A national CMT registry system is highly wanted to collect comprehensive information to guide further research and improve patients’ health status.