| Autor: |
Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, Karla P. Figueroa, Ruth H. Walker, Andrew K. Sobering |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2160-8288 |
| DOI: |
10.7916/tohm.v0.704 |
| Popis: |
Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions. Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3. Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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