Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

• DOI: 10.5334/tohm.298
• Publication Date: 2020-06-24T11:19:36Z
• Authors: Andrew E. Becker; Wendy Vargas; Toni S. Pearson
• Keywords: Dysmetria; Cervical dystonia

<strong>Background:</strong> Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents ataxia, areflexia, and proprioceptive vibratory sensory loss. Dystonia has been reported rarely. <strong>Case Report:</strong> An 11-year-old female presented dystonic head tremor cervical bilateral arm dystonia. Her 14-year-old older brother had generalized One year later, the developed dysarthria, limb dysmetria, gait ataxia. Compound heterozygous mutations in <em>TTPA</em> were detected, confirming diagnosis of AVED. <strong>Discussion:</strong> AVED may present dystonia rather than should be considered differential progressive