GTR Home > Conditions/Phenotypes > Mohr-Tranebjaerg syndrome

Disease characteristics

Excerpted from the GeneReview: Deafness-Dystonia-Optic Neuronopathy Syndrome
Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.

Available tests

31 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: DDP, DDP1, DFN1, MTS, TIM8, TIMM8A
    Summary: translocase of inner mitochondrial membrane 8 homolog A (yeast)

Clinical features

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  • Hyperreflexia
  • Abnormal posturing
  • Constricted visual fields
  • Abnormal electroretinogram
  • Dysarthria
  • Dysphagia
  • Mental deterioration
  • Tremor
  • Increased susceptibility to fractures
  • Progressive sensorineural hearing impairment
  • Visual impairment
  • Myopia
  • Photophobia
  • Spasticity
  • Dystonia
  • Postlingual sensorineural hearing impairment
  • Cortical visual impairment
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