CASE REPORT article
Front. Genet.
Sec. Neurogenomics
Case Report: Recurrent Stroke-Like Episodes Triggered by High-Altitude Exposure in X-Linked Charcot-Marie-Tooth Disease
Provisionally accepted
- Sichuan University, Chengdu, China
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Abstract: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by mutations in the GJB1 gene, leading to progressive distal muscle weakness and atrophy. In this case study, a 37-year-old man presented with recurrent episodes of numbness involving the lips, right hand, and foot, followed by right-sided limb weakness and dysarthria four times over the past 20 years. Notably, the last three episodes were consistently triggered within three days after descent to sea level following exposure to high-altitude environments (8500-10000 feet, with transit above 13000 feet). Based on the neurologic examination, brain magnetic resonance imaging (MRI), and genetic testing, the patient was diagnosed with X-linked Charcot-Marie-Tooth disease. This case underscores the importance of considering high-altitude exposure as a potential trigger and highlights the value of GJB1 testing in young patients presenting with acute stroke-like episodes and signs of peripheral neuropathy.
Keywords: Charcot–Marie–Tooth disease (CMTX), GJB1 gene, High-altitude hypoxia, Reversible white matter lesions, Stroke-like episodes
Received: 16 Dec 2025; Accepted: 04 Feb 2026.
Copyright: © 2026 Zhong, Yang, Wu and Jiang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shuai Jiang
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