Definition of Mohr–Tranebjærg syndrome
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It is 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. 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.
Terms mentioned above
Related terms
Usher syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis…
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK…
Waardenburg syndrome type 2D
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare…
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic…
CHARGE syndrome
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a…
Weissenbacher–Zweymüller syndrome
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal…
Thickened earlobes-conductive deafness syndrome
Thickened earlobes-conductive deafness syndrome, also known as Escher-Hirt syndrome, or…
Barakat syndrome
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural…
Myhre syndrome
Myhre syndrome (MS) is an ultrarare genetic disorder caused by dominant gain-of-function…
Frequently asked questions
What is Mohr–Tranebjærg syndrome?
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene.
Sources & credits
- Wikipedia: Mohr–Tranebjærg syndrome – CC BY-SA 4.0
- Image by XlinkRecessive.jpg : National Institutes of Health derivative work: Drsrisenthil – Public domain