Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation

ABSTRACT Introduction Dystonia‐deafness syndrome is a distinct clinical presentation within the dystonia‐spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives To describe two patients with dystonia‐deafness syndrom...

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Veröffentlicht in:	Movement disorders 2017-01, Vol.32 (1), p.162-165
Hauptverfasser:	Eggink, Hendriekje, van Egmond, Martje E., Verschuuren‐Bemelmans, Corien C., Schönherr, Marleen C., de Koning, Tom J., Oterdoom, D.L. Marinus, Dijk, J. Marc C., Tijssen, Marina A.J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Actin Actins - genetics Adult Baraitser‐Winter syndrome beta‐actin Deaf-Blind Disorders - genetics Deaf-Blind Disorders - therapy Deafness Deep brain stimulation Deep Brain Stimulation - methods Dystonia Dystonia - genetics Dystonia - therapy dystonia‐deafness syndrome Etiology Female Genetic screening Humans Intellectual Disability - genetics Intellectual Disability - therapy Middle Aged Mothers Movement disorders Mutation Nuclear Family Optic Atrophy - genetics Optic Atrophy - therapy Parkinson's disease Point mutation Winter Young Adult
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