Blepharospasm and limb dystonia caused by Mohr‐Tranebjaerg syndrome with a novel splice‐site mutation in the deafness/dystonia peptide gene
- 29 May 2007
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 22 (9) , 1328-1331
- https://doi.org/10.1002/mds.21351
Abstract
Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42‐year‐old man with MTS presenting with postlingual deafness, adult‐onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5′ splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition. © 2007 Movement Disorder SocietyKeywords
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