Deafness-dystonia syndrome

Mohr–Tranebjærg syndrome
Mohr–Tranebjærg syndrome is inherited in an X-linked recessive manner
Classification and external resources
ICD-10	G31.8
OMIM	304700
MeSH	C535808
Orphanet	52368
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Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.

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