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Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

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 a...

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Detalles Bibliográficos
Autores principales: Becker, Andrew E., Vargas, Wendy, Pearson, Toni S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884265/
https://www.ncbi.nlm.nih.gov/pubmed/27274910
http://dx.doi.org/10.7916/D8B85820
Descripción
Sumario: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.