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Deafness dystonia syndrome

Synonyms
DDON syndrome; DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY; DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME; DYSTONIA-DEAFNESS SYNDROME, X-LINKED; Deafness-Dystonia-Optic Neuronopathy Syndrome; Deafness-dystonia-optic neuronopathy (DDON) syndrome; Jensen syndrome; Mohr-Tranebjaerg syndrome; Nerve deafness optic nerve atrophy, and dementia; OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA; Opticoacustic nerve atrophy with dementia; Syndrome of opticoacoustic nerve atrophy with dementia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

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 at 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. [from GeneReviews]

Available tests

73 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (73 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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