| 词条 | Mohr–Tranebjærg syndrome |
| 释义 |
| synonyms = Deafness–dystonia–optic neuronopathy syndrome, Deafness–dystonia–optic atrophy syndrome, Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency | name = Mohr–Tranebjærg syndrome | image = X-linked recessive.svg | image_size = 150px | caption = Mohr–Tranebjærg syndrome is inherited in an X-linked recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960.[1] The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration. See also
References1. ^{{cite journal |vauthors=Mohr J, Mageroy K |title=Sex-linked deafness of a possibly new type |journal=Acta Genet Stat Med |volume=10 |issue= |pages=54–62 |year=1960 |pmid=13771732 |doi= |url=}} External links{{Medical resources| DiseasesDB = | ICD10 = G31.8 | ICD9 = | ICDO = | OMIM = 304700 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C535808 | Orphanet = 52368 }}
2 : Extrapyramidal and movement disorders|Syndromes affecting hearing |
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