Mohr-Tranebjaerg syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Overview

Mohr-Tranebjaerg syndrome (MTS) (formerly DFN-1) is an X-linked neurodegenerative syndrome.[1]

Clinical features

  • Prelingual or postlingual sensorineural hearing loss
  • Progressive dystonia and visual impairment
  • Psychiatric symptoms, cognitive impairment and behavioural problems

Early-onset deafness is the only pathognomonic symptom; all other clinical signs vary in their degree of severity and clinical course.

Genetics

  • The underlying genetic defects are found in the TIMM8A/DDP1 gene located on chromosome Xq22.
  • DDP1/TIMM8A encodes a small polypeptide of 97 amino acid residues, the deafness-dystonia peptide 1 (DDP1). Functional studies revealed that DDP1 is localized to the mitochondria, and plays a role in the import of nuclear-encoded preproteins into the mitochondrial inner membrane.
  • Loss of DDP1 leads to impairment of specific mitochondrial functions and, subsequently, to degeneration of neuronal cells.

Treatment

As with other mitochondrial disorders, there is no specific treatment for MTS.

References

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