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