Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Tremor and Other Hyperkinetic Movements

article

Nester Mitchell¹  Gaynel A. LaTouche²  Beverly Nelson²  Karla P. Figueroa³  Ruth H. Walker⁴  Andrew K. Sobering⁶ 

[1] Department of Internal Medicine, Grenada General Hospital;Department of Pediatrics, Grenada General Hospital;Department of Neurology, University of Utah;Department of Neurology, James J. Peters Veterans Affairs Medical Center;Department of Neurology, Mount Sinai School of Medicine;Department of Biochemistry, St. George’s University

关键词: Spinocerebellar ataxia type 3;    childhood onset;    tongue dystonia;    lingual dystonia;    polyglutamine tract expansion disorder;   

DOI  :  10.5334/tohm.484

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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.

【 授权许可】

CC BY