ArticleJournal of neurology2025
A cross-sectional survey on the health status of patients with Charcot-Marie-Tooth disease in a Chinese national patient group.
Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- A national cross-sectional study of patients with inherited retinal disease in China.Scientific reports · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
backgroundCharcot-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.
methodsThe 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.
resultsCMT1A, 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.
conclusionChinese 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.
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