Mohr-Tranebjaerg syndrome

(redirected from Dystonia-Deafness Syndrome)
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Mohr-Tranebjaerg syndrome

An autosomal recessive neurodegenerative syndrome (OMIM:304700) characterised by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration and cortical blindness.

Molecular pathology
Defects of TIMM8A, which encodes a translocase, cause Mohr-Tranebjaerg syndrome.
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