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Article

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2013

Kojovic Maja, Pareés Isabel, Lampreia Tania, Pienczk-Reclawowicz Karolina, Xiromerisiou Georgia, Rubio-Agusti Ignacio, Kramberger Milica, Carecchio Miryam, Alazami Anas M, Brancati Francesco, Slawek Jaroslaw, Pirtosek Zvezdan, Valente Enza Maria, Alkuraya Fowzan S, Edwards Mark J, Bhatia Kailash P

Abstract excerpt

The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of...

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Identifiers

PMID: 23418071
DOI: 10.1002/mds.25394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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