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.
Goyal
V
V
Department of Neurology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Behari
M
M
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