Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma
Spinocerebellar ataxia type 2 (SCA2) is a rare disease characterized by slowly progressive ataxia, dysarthria, ophthalmoplegia, and slow saccade. SCA2 can present with a complex combination of hyperkinetic and hypokinetic movement disorders. Here, we describe a patient with SCA2 that partly mimicked...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2019-12-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/0300060519889457 |
| Summary: | Spinocerebellar ataxia type 2 (SCA2) is a rare disease characterized by slowly progressive ataxia, dysarthria, ophthalmoplegia, and slow saccade. SCA2 can present with a complex combination of hyperkinetic and hypokinetic movement disorders. Here, we describe a patient with SCA2 that partly mimicked the clinical manifestations of Huntington’s disease; similar symptoms had previously occurred in the patient’s family members. The findings in this report indicate that, when a patient exhibits choreiform movement (i.e., accompanying cerebellar ataxia), an SCA2-related mutation could be responsible for the onset of disease. In addition, this knowledge of the potential for extrapyramidal involvement in such patients is critical for clinicians. |
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| ISSN: | 0300-0605 1473-2300 |