攀登者在喀喇昆仑探险中首次出现脊髓小脑共济失调的临床症状。

Climber exhibits first clinical manifestation of spinocerebellar ataxia on Karakoram expedition.

机构信息

Department of Emergency Medicine, Faculty of Health Sciences, Medical University of Gdańsk, Mariana Smoluchowskiego 17, 80-214 Gdańsk, Poland.

Department of Neurology, Faculty of Medicine, Medical University of Gdańsk, Mariana Smoluchowskiego 17, 80-214, Gdańsk, Poland.

出版信息

J Travel Med. 2022 Aug 20;29(5). doi: 10.1093/jtm/taac020.

DOI:10.1093/jtm/taac020

PMID:35172005

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9392426/

Abstract

Spinocerebellar ataxias are rare, genetically inherited diseases. Their typical symptoms include disturbances in gait, balance and uncoordinated movements, but these abnormalities, when appear at altitude, might also suggest high-altitude cerebral edema. We described the first clinical manifestation of spinocerebellar ataxia of a climber from Poland on a Karakoram expedition.

摘要

脊髓小脑共济失调是罕见的遗传性疾病。其典型症状包括步态、平衡和不协调运动障碍，但这些异常在高海拔地区出现时，也可能提示高原脑水肿。我们描述了波兰登山者在喀喇昆仑探险中首次出现脊髓小脑共济失调的临床表现。