A 25-year-old man with Friedreich ataxia since childhood, who has been in wheelchair for 3 years. Note the evident proximal weakness of the upper limbs, slowness of movement, and lack of an obvious kinetic tremor. The video also shows the characteristic eye movement abnormality of Friedreich ataxia and fixation instability with square-wave jerks. Note the absence of nystagmus.
Massimo Pandolfo, MD; Mario Manto, MD, PhD
CONTINUUM: Lifelong Learning in Neurology. 19(5, Movement Disorders):1312-1343, October 2013