Ataxia with Vitamin E Deficiency (AVED) is an autosomal recessive cerebellar ataxia caused by mutation of the TPPA gene. Classically, AVED clinically resembles Friedreich’s Ataxia (FA), presenting with early-onset progressive gait ataxia, dysarthria, areflexia and loss of vibration and proprioception. Dystonia is a rare and usually minor clinical feature.

An 18-year-old male presented with mild but long-standing gait and writing difficulties. Walking and speech development were delayed but achieved in childhood. In adolescence, gait and hand dexterity deteriorated. Intermittent dysarthria was reported. Nonetheless, he was fully ambulatory at presentation, without any gross disability. Examination revealed subtle dystonic posturing of the right hand and right foot upon writing or walking. There was reduced vibration sense to the tibial tuberosity on the right, reduced reflexes, but flexor plantars. There was no weakness, spasticity, titubation, tremor, ataxia, or dysdiadochokinesis. There were no dysmorphic features, spinal or lower limb deformities. 

MRI brain was normal. MRI spine showed subtle thoracic scoliosis. Next generation sequencing revealed two known pathogenic heterozygous variants of the TPPA gene.  Vitamin E level was low at 1.3 (11.6-41.8) μmol/L.

Dystonia is a rare presentation described in AVED. When present, it occurs late, and is overwhelmed by other neurological manifestations of the disease . We report an unusual case of AVED presenting with a mild, slowly progressive and predominantly dystonic clinical picture, thereby widening the phenotypic spectrum of AVED, both in terms of clinical signs and severity. This is the first reported case of a patient with no family history receiving a diagnosis of AVED prior to developing any clinically evident signs of ataxia. Given the potential for treatment, this case highlights the need to extend the practice of Vitamin E testing to a wider patient cohort with subtler and more diverse neurologic signs than the typical FA-like syndrome.