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Deafness dystonia syndrome

Synonyms
DDON syndrome; DYSTONIA-DEAFNESS SYNDROME, X-LINKED; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-Dystonia-Optic Neuronopathy Syndrome; Deafness-dystonia-optic atrophy 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

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 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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lisbeth Tranebjærg
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Available tests

80 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (80 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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