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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.

Genes See tests for all associated and related genes

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

Clinical features


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