Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

✍ Scribed by Hee T. Kim; Mark J. Edwards; Jess Tyson; Niall P. Quinn; Maria Bitner-Glindzicz; Kailash P. Bhatia

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 85 KB
• Volume: 22
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21351

✦ Synopsis

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 Society