Spinocerebellar ataxia type 3 (Machado-Joseph disease)

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Spinocerebellar ataxia type 3 (Machado Joseph disease)

This video demonstrates a man with Machado-Joseph disease (spinocerebellar ataxia type 3). He has facial masking with markedly reduced eye blink rate and prominent facial dystonia. Oculomotor examination reveals saccadic pursuits and limited vertical gaze, especially upgaze. Parkinsonism is also evident on finger-tapping examination. He is wheelchair-bound and is unable to stand unassisted. On standing, his base is markedly wide. (Contributed by Dr. Pichet Termsarasab.)