Dystonia as presenting manifestation of ataxia telangiectasia : a case report.
Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, 110029, India.
V
V
Goyal
M
M
Behari
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis; D002648:Child; D004421:Dystonia / Q000209:etiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male