/deafness dystonia syndrome

deafness dystonia syndrome

Rare Disease

MONDO:0010578

Also Known As

DDON syndromeDeafness-Dystonia-Optic Neuronopathy SyndromeMohr-Tranebjaerg syndromeMohr-Tranebjaerg syndrome, X-linked recessivedeafness dystonia optic atrophy syndromedeafness dystonia optic neuronopathy syndromedeafness dystonia optic neuronopathy syndrome (DDON)deafness dystonia syndromedeafness-dystonia-optic neuronopathy syndromedystonia deafness syndromeDDPMOHR-Tranebjaerg syndromeMTSdeafness - dystonia - optic neuronopathy syndromedeafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiencydeafness-Dystonia-optic atrophy syndromedeafness-dystonia-optic neuronopathy (DDON) syndromedystonia-deafness syndrome

Definition

An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.