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.
27-518: [REDACTED] Look up Mts in Wiktionary, the free dictionary. MTS , Mts or mts may refer to: Organizations [ edit ] Machine and tractor station , Soviet state-owned enterprise Manitoba Teachers' Society , Canada, founded 1919 Marine Technology Society , professional society Marine Transportation Services , northern Canadian shipping company Marion Transit System ,
54-595: A biochemical cell assay used in research Muir–Torre syndrome , a cancer syndrome Other uses [ edit ] Make to stock , build-ahead production approach Master of Theological Studies , a graduate degree Matsapha Airport (IATA code MTS), a former airport in Eswatini Moored training ship , a United States Navy Nuclear Power School training ship Megan Thee Stallion , an American rapper, singer, and songwriter See also [ edit ] MTSS (disambiguation) Topics referred to by
81-530: A biochemical cell assay used in research Muir–Torre syndrome , a cancer syndrome Other uses [ edit ] Make to stock , build-ahead production approach Master of Theological Studies , a graduate degree Matsapha Airport (IATA code MTS), a former airport in Eswatini Moored training ship , a United States Navy Nuclear Power School training ship Megan Thee Stallion , an American rapper, singer, and songwriter See also [ edit ] MTSS (disambiguation) Topics referred to by
108-565: A bus service in Marion, Indiana Merchant Taylors' School (disambiguation) , several schools Metcash (stock exchange code), Australian distribution company Metro Transport Sydney , Australia, former Sydney light rail and monorail owner until 2013 Metro Trains Sydney , Australia, operator of the Sydney Metro Northwest line since 2019 Millennium Transit Services , a 2003–2009 US bus builder Mitchelton–Scott ,
135-437: A bus service in Marion, Indiana Merchant Taylors' School (disambiguation) , several schools Metcash (stock exchange code), Australian distribution company Metro Transport Sydney , Australia, former Sydney light rail and monorail owner until 2013 Metro Trains Sydney , Australia, operator of the Sydney Metro Northwest line since 2019 Millennium Transit Services , a 2003–2009 US bus builder Mitchelton–Scott ,
162-576: A carrier. Where the male is affected, male offspring do not inherit the pathogenic mutation and females are obligate carriers. TIMM8A is also referred to as DDP. Koehler determined the function of the DDP gene and concluded that the Mohr-Tranebjaerg syndrome is a novel type of mitochondrial disease that is most likely caused by a defective mitochondrial protein-import system. A combination of hearing impairment and recurrent infections due to XLA in
189-528: A female carrier offspring is 100%, and male offspring will not have any chance of inheriting the syndrome. Because of the statistical probabilities that each sex inherits the syndrome, males are affected by Mohr-Tranebjærg more frequently than females are. Females who carry one copy of the TIMM8A gene (described in Genetics) are usually unaffected, however, may develop mild hearing loss and dystonia. Prognosis
216-403: A mainframe operating system Microsoft Transaction Server , software MT/s , megatransfers per second MPEG transport stream , a digital media container format Biology and medicine [ edit ] Malaysian trumpet snail Mesial temporal sclerosis , pattern of hippocampal neuron cell loss Mohr–Tranebjærg syndrome , also known as deafness–dystonia syndrome MTS assay ,
243-403: A mainframe operating system Microsoft Transaction Server , software MT/s , megatransfers per second MPEG transport stream , a digital media container format Biology and medicine [ edit ] Malaysian trumpet snail Mesial temporal sclerosis , pattern of hippocampal neuron cell loss Mohr–Tranebjærg syndrome , also known as deafness–dystonia syndrome MTS assay ,
270-590: A male patient should elicit sequencing of the TIMM8A gene. Neuroimaging is employed to verify the presence of cerebral atrophy. In cases of suspected CGS; testing for XLA is possible. This is long and includes The treatment for Mohr-Tranebjærg vary depending on the symptoms and the evolution of these symptoms over time. Since hearing loss is prevalent in those with Mohr-Tranebjærg, hearing aids, devices, or cochlear implants are considered for increasingly serious cases. In those patients with secondary complications from
297-618: A professional cycling team that competes on the UCI World Tour MTS Entertainment , a television syndication unit of Mattel MTS Systems Corporation , test system supplier Muckleshoot Tribal Schools San Diego Metropolitan Transit System , since 1886 Telecommunications [ edit ] Bell MTS , a telecommunications provider in Manitoba, Canada formerly known as Manitoba Telephone System and Manitoba Telecom Services Mts (Telekom Srbija) ,
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#1732772145515324-474: A professional cycling team that competes on the UCI World Tour MTS Entertainment , a television syndication unit of Mattel MTS Systems Corporation , test system supplier Muckleshoot Tribal Schools San Diego Metropolitan Transit System , since 1886 Telecommunications [ edit ] Bell MTS , a telecommunications provider in Manitoba, Canada formerly known as Manitoba Telephone System and Manitoba Telecom Services Mts (Telekom Srbija) ,
351-481: A telecommunications company in Serbia MTS (network provider) , a Russian telecommunications company MTS India , Indian subsidiary of MTS MTS Ukraine, former name of Vodafone Ukraine , a Ukrainian subsidiary of MTS MTS Turkmenistan Science and technology [ edit ] Metre–tonne–second system of units , a system of physical units Metrical task system , mathematical objects used in
378-422: A telecommunications company in Serbia MTS (network provider) , a Russian telecommunications company MTS India , Indian subsidiary of MTS MTS Ukraine, former name of Vodafone Ukraine , a Ukrainian subsidiary of MTS MTS Turkmenistan Science and technology [ edit ] Metre–tonne–second system of units , a system of physical units Metrical task system , mathematical objects used in
405-714: Is characterized by preserved oto-acoustic emissions, abnormal auditory brain stem response, poor speech, and worsening in auditory symptoms even with auditory devices. Also, neuropsychological manifestations, possibly consisting of personality changes, paranoia, and mild intellectual deficit could emerge. During adolescence, there is a possibility that a slowly progressive movement disorder, similar to gegenhalten, dystonia, or ataxia could develop. Patients with Mohr-Tranebjærg experience reduced visual acuity, photophobia, acquired color vision defect and central scotomas developing at around 20 years of age, and leading to more severe blindness by age 30 or 40. The first symptom of DDON syndrome
432-600: Is different from Wikidata All article disambiguation pages All disambiguation pages Mts (Redirected from Mts ) [REDACTED] Look up Mts in Wiktionary, the free dictionary. MTS , Mts or mts may refer to: Organizations [ edit ] Machine and tractor station , Soviet state-owned enterprise Manitoba Teachers' Society , Canada, founded 1919 Marine Technology Society , professional society Marine Transportation Services , northern Canadian shipping company Marion Transit System ,
459-452: Is different from Wikidata All article disambiguation pages All disambiguation pages Mohr%E2%80%93Tranebj%C3%A6rg syndrome Mohr-Tranebjærg is characterized by a variety of symptoms affecting hearing loss. In the span of a subject with Mohr-Tranebjærg, by the age of early childhood, around 18 months, the development of quickly progressive prelingual or postlingual sensorineural hearing loss. The presence of auditory symptoms
486-406: Is hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), which begins in early childhood. The hearing impairment worsens over time, and most affected individuals have profound hearing loss by age 10. Individuals with Mohr Tranebjærg syndrome have normal vision during childhood, but they may develop vision problems due to breakdown of the nerves that carry information from
513-408: Is poor. The combination of deafness and blindness severely affects communication, while the ongoing movement disorder results in an increasingly unstable gait. Life expectancy is highly variable and can range from death in the teenage years (after a rapidly progressive dystonia) to those that live into their 60's. This condition was first described in 1960. Mohr-Tranebjᴂrg syndrome (MTS) prevalence
540-456: The context of online algorithms MIDI Tuning Standard , a specification of precise musical pitch Mobile Telephone Service , early mobile telephone standard Movement Tracking System , US battlefield asset-tracking system Multichannel television sound , encoding several sound channels onto a single carrier Computing [ edit ] .mts , file format for multiplexed audio, video and other streams Michigan Terminal System ,
567-456: The context of online algorithms MIDI Tuning Standard , a specification of precise musical pitch Mobile Telephone Service , early mobile telephone standard Movement Tracking System , US battlefield asset-tracking system Multichannel television sound , encoding several sound channels onto a single carrier Computing [ edit ] .mts , file format for multiplexed audio, video and other streams Michigan Terminal System ,
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#1732772145515594-451: The eyes to the brain (optic atrophy). Affected individuals can develop an increased sensitivity to light (photophobia) or other vision problems beginning in adolescence. Their sharpness of vision (visual acuity) slowly worsens, often leading to legal blindness in mid-adulthood. This condition is caused by mutations in the TIMM8A gene. This gene is located on the long arm of X chromosome (Xq22). The protein encoded by this gene localizes to
621-400: The intermembrane space in mitochondria where it functions in the import of nuclear encoded proteins into the mitochondrial inner membrane. How this produces the clinical picture is not yet clear. The pattern of inheritance is X-linked recessive. Where the female is a carrier, male offspring have a 50 percent chance of inheriting the disease and female offspring have a 50 percent chance of being
648-405: The pattern of inheritance for Mohr-Tranebjærg is known to be X-linked recessive, genetic counseling is considered beneficial to families with known carriers. In the case that a female is a carrier, the statistical risk of male offspring inheriting the disease is 50%, while the probability that a female offspring will be a carrier is 50%. However, when a male is the carrier, the probability of having
675-403: The same term [REDACTED] This disambiguation page lists articles associated with the title MTS . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=MTS&oldid=1255653185 " Category : Disambiguation pages Hidden categories: Short description
702-403: The same term [REDACTED] This disambiguation page lists articles associated with the title MTS . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=MTS&oldid=1255653185 " Category : Disambiguation pages Hidden categories: Short description
729-468: The syndrome, intravenous immunoglobin may act to prevent infections in X-linked agammaglobulinemia, an inherited immune system disorder that can reduce the ability to fight infections. Similarly, those with XLA should avoid live viral vaccines. Patients that reach adulthood should seek regular evaluations from a neurologist to test the advancement of possible dementia and psychiatric manifestations Since
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