Climber exhibits first clinical manifestation of spinocerebellar ataxia on Karakoram expedition

Author:

Szymczak Robert K12ORCID,Sawicka Magdalena34ORCID,Pyrzowski Jan5

Affiliation:

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

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

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

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

5. Institute of Brain and Spine , Pitié-Salpêtriere Hospital, UMRS 1127,CNRS UMR 7225, Hôpital Pitié-Salpetriere, 47 Bd de l’Hôpital, 75013, Paris, France

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.

Funder

Medical University of Gdansk

Publisher

Oxford University Press (OUP)

Subject

General Medicine

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3. Genetic cerebellar ataxias;Storey;Semin Neurol,2014

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