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dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1
Genetics:
1) mutation in the gene for TIM8A
- same gene implicted in Jensen syndrome
2) X-linked inheritance
Clinical manifestations:
1) deafness
- hearing impairment may be first become evident at age 3-5 years
2) progresive dystonia, spasticity, dysphagia
3) cortical blindness secondary to optic nerve atrophy may occur but may be absent
4) fractures
5) mental retardation may occur but may be absent
6) paranoia
Related
Jensen syndrome; opticoacoustic nerve atrophy with dementia
mitochondrial import inner membrane translocase subunit TIM8A; deafness dystonia protein 1; X-linked deafness dystonia protein (TIMM8A, DDP, DDP1, TIM8A)
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 304700
References
OMIM :accession 304700