dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1

Genetics

• mutation in the gene for TIM8A
  • same gene implicted in Jensen syndrome
• X-linked inheritance

Clinical manifestations

• deafness
  • hearing impairment may be first become evident at age 3-5 years
• progresive dystonia, spasticity, dysphagia
• cortical blindness secondary to optic nerve atrophy may occur but may be absent
• fractures
• mental retardation may occur but may be absent
• paranoia

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/304700