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Question
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A 43-year-old woman presents with 5 years of a gradually progressive ataxic gait disorder and dysarthria. MRI of her brain shows atrophy of the cerebellum. She has also been diagnosed with retinal macular degeneration
Explanation
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Spinocerebellar ataxias (SCAs) present with gradually progressive ataxia and dysarthria. There are over 30 SCA mutations. Spinocerebellar ataxia type 7 is associated with retinal macular degeneration
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Reference
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Pandolfo M, Manto M. Cerebellar and afferent ataxias. Continuum (Minneap Minn). 2013 Oct19(5 Movement Disorders)1312-43. doi 10.121201.CON.0000436158.39285.22. PMID 24092292.
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Option 1
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Is Correct (Option 1):
Friedreich ataxia
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Option 2
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Is Correct (Option 2):
Paraneoplastic cerebellar degeneration
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Option 3
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Is Correct (Option 3):
Spinocerebellar ataxia type 7
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Option 4
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Is Correct (Option 4):
Vitamin E deficiency
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