Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as Deafness-dystonia syndrome and caused by mutation in the TIMM8A

TIMM8A

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8A gene.This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane...

 gene. It was first described in 1960. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia

Dystonia

Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...

 and sometimes are accompanied by cortical deterioration of vision

Visual perception

Visual perception is the ability to interpret information and surroundings from the effects of visible light reaching the eye. The resulting perception is also known as eyesight, sight, or vision...

and mental deterioration.

Alternative names

• Deafness-dystonia-optic neuronopathy syndrome, DDS
• Deafness-dystonia-optic atrophy syndrome, DDP
• Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency

External links

• The Deafness Dystonia Protein DDP and Mitochondrial Division — a free videolecture by Craig Blackstone touching on the genetics of the disorder, 2002.
• GeneReviews/NCBI/NIH/UW entry on Deafness-Dystonia-Optic Neuronopathy Syndrome
• MTS — a page at NIH website