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.
Keywords: Spinocerebellar ataxia; high altitude; inherited disease; neurodegeneration.