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Year : 2021  |  Volume : 12  |  Issue : 1  |  Page : 73-75

Chorea-acanthocytosis: A case report with review of oral manifestations

Department of Oral and Maxillofacial Pathology, Maulana Azad Institute of Dental Sciences, New Delhi, India

Correspondence Address:
Dr. Aadithya B Urs
Department of Oral and Maxillofacial Pathology, Maulana Azad Institute of Dental Sciences, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ccd.ccd_207_20

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Chorea-acanthocytosis (ChAc) is an autosomal recessive, progressive neurological disorder due to mutation in VPS13A gene causing defects in sorting of protein making the cell membrane unstable, leading to star-shaped erythrocytes. This neurological disorder includes features such as elevated creatinine kinase, atrophy of basal ganglia, and oral manifestations such as frequent cheek and tongue biting. It is a rare neurological condition with an estimate of <1000 cases worldwide. A case of 47-year-old male patient with a history of seizures and neurological problems presenting with oral ulceration has been discussed. The diagnosis of ChAc was confirmed by molecular investigations showing VPS13A gene mutation. The physical appearance includes chorea and dystonia with impaired gait. We attempt to highlight the oral features of ChAc. The oral manifestations include frequent tongue and cheek biting occurring due to dystonia affecting the muscles of head and neck region.

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