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[Charcot-Marie-Tooth disease Patient Registry in Japan].

Yuka Okabe1, Yukiko Tsuji1, Yu-Ichi Noto1

  • 1Department of Neurology, Kyoto Prefectural University of Medicine Graduate School.

Rinsho Shinkeigaku = Clinical Neurology
|May 17, 2023
PubMed
Summary

This study surveyed 303 Charcot-Marie-Tooth disease (CMT) patients in Japan, revealing significant daily life challenges and healthcare needs. Findings highlight the necessity for improved welfare and medical care to support CMT patients.

Keywords:
Association of CMT patientsCharcot–Marie–Tooth diseasegenetic analysisquestionnaire surveysregistry study

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Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Context:

  • Charcot-Marie-Tooth disease (CMT) presents diverse clinical courses and impacts daily living.
  • Understanding the specific challenges faced by Japanese CMT patients is crucial for targeted support.
  • A nationwide patient registry is essential for comprehensive data collection.

Purpose:

  • To establish the Charcot-Marie-Tooth disease Patient Registry (CMTPR) in Japan.
  • To analyze the natural history, medical conditions, and daily life challenges of CMT patients.
  • To gather data on healthcare utilization and welfare needs.

Summary:

  • Data from 303 Japanese CMT patients (mean age 45.9) were analyzed.
  • Onset occurred before 15 years in 45%; 65% underwent genetic testing, with PMP22 duplication common.
  • 15% needed upper limb and 25% lower limb assistance; 18% of adults faced work difficulties.

Impact:

  • This is the first nationwide epidemiological study on CMT in Japan, integrating healthcare and welfare data.
  • Results provide critical insights into the lived experiences of CMT patients.
  • The findings aim to inform and improve future medical care and welfare provisions for CMT individuals.