Dystonia deafness syndromes
Evidence-based neurology checklist on dystonia deafness syndromes: Mohr-Tranebjaerg syndrome (MTS) This is a neurodevelopmental disorder It is caused by mutations in the DDP1 gene The transmission is X-linked recessive It causes deafness and dystonia It also manifests with progressive cognitive…
Mohr-Tranebjaerg syndrome (MTS)
- This is a neurodevelopmental disorder
- It is caused by mutations in the DDP1 gene
- The transmission is X-linked recessive
- It causes deafness and dystonia
- It also manifests with progressive cognitive decline
- There are pyramidal signs and freezing of gait
- It is associated with optic atrophy
- Synonym: deafness dystonia optic neuronopathy (DDON)
Other dystonia deafness syndromes
Acronym
References
- Ha AD, Parratt KL, Rendtorff ND, et al. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord 2012; 27:1034-1040.
- Brookes JT, Kanis AB, Tan LY, Tranebjaerg L, Vore A, Smith RJ. Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. Int J Pediatr Otorhinolaryngol 2008; 72:121-126.
- Pizzuti A, Fabbrini G, Salehi L, et al. Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. Neurology 2004; 62:1021-1022.
- Kojovic M, Pareés I, Lampreia T, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord 2013; 28:795-803.
- Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol 2017; 82:1004-1015.
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