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Mohr-Tranebjaerg syndrome(MTS)

MedGen UID:
162903
Concept ID:
C0796074
Disease or Syndrome
Synonyms: DDON syndrome; Deafness dystonia syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; Deafness-dystonia-optic neuronopathy (DDON) syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; JENSEN SYNDROME; MTS; OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deafness-dystonia syndrome (702423009); Mohr-Tranebjaerg syndrome (702423009); Deafness-dystonia-optic neuronopathy syndrome (702423009)
 
Gene (location): TIMM8A (Xq22.1)
OMIM®: 304700
Orphanet: ORPHA52368

Disease characteristics

Excerpted from the GeneReview: Deafness-Dystonia-Optic Neuronopathy Syndrome
Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.  [from GeneReviews]
Authors:
Lisbeth Tranebjærg   view full author information

Additional description

From GHR
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.The first symptom of DDON syndrome 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.People with DDON syndrome typically begin to develop problems with movement during their teens, although the onset of these symptoms varies among affected individuals. Some people experience involuntary tensing of the muscles (dystonia), while others have difficulty coordinating movements (ataxia). The problems with movement usually worsen over time.Individuals with DDON syndrome have normal vision during childhood, but they may begin to develop an increased sensitivity to light (photophobia) or other vision problems during their teens. These people often have a slowly progressive reduction in the sharpness of vision (visual acuity) and become legally blind in mid-adulthood.People with this condition may also have behavior problems, including changes in personality and aggressive or paranoid behaviors. They also usually develop a gradual decline in thinking and reasoning abilities (dementia) in their forties. The lifespan of individuals with DDON syndrome depends on the severity of the disorder. People with severe cases have survived into their teenage years, while those with milder cases have lived into their sixties.  https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome

Clinical features

Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
Abnormal electroretinogram
MedGen UID:
341512
Concept ID:
C1849688
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Decreased central vision
MedGen UID:
461148
Concept ID:
C3149798
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Postlingual sensorineural hearing impairment
MedGen UID:
870217
Concept ID:
C4024654
Pathologic Function
A form of sensorineural hearing impairment with onset after the acquisition of speech.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Abnormal posturing
MedGen UID:
66660
Concept ID:
C0231471
Finding
Involuntary flexion or extension of the arms and legs.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body. Anyone can have a swallowing disorder, but it is more likely in the elderly. It often happens because of other conditions, including. - Nervous system disorders, such as Parkinson's disease and cerebral palsy. - Problems with your esophagus, including GERD (gastroesophageal reflux disease). - Stroke. - Head or spinal cord injury. - Cancer of the head, neck, or esophagus. Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes. NIH: National Institute on Deafness and Other Communication Disorders.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Mohr-Tranebjaerg syndrome in Orphanet.

Recent clinical studies

Etiology

Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Mov Disord 2013 Jun;28(6):795-803. Epub 2013 Feb 15 doi: 10.1002/mds.25394. PMID: 23418071
Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD
J Clin Immunol 2007 Nov;27(6):640-6. Epub 2007 Sep 12 doi: 10.1007/s10875-007-9123-x. PMID: 17851739

Diagnosis

Cif L, Gonzalez V, Garcia-Ptacek S, James S, Boetto J, Seychelles A, Roujeau T, Moura De Ribeiro AM, Sillon M, Mondain M, Coubes P
Mov Disord 2013 Jun;28(6):737-8. doi: 10.1002/mds.25519. PMID: 23801560
Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS
Mov Disord 2012 Jul;27(8):1034-40. Epub 2012 Jun 26 doi: 10.1002/mds.25033. PMID: 22736418
Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F
Neuromolecular Med 2007;9(4):285-91. Epub 2007 Aug 3 doi: 10.1007/s12017-007-8000-3. PMID: 17999202
Kim HT, Edwards MJ, Tyson J, Quinn NP, Bitner-Glindzicz M, Bhatia KP
Mov Disord 2007 Jul 15;22(9):1328-31. doi: 10.1002/mds.21351. PMID: 17534980
Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L
Laryngoscope 2007 Jul;117(7):1202-8. doi: 10.1097/MLG.0b013e3180581944. PMID: 17471106Free PMC Article

Therapy

Kreisel SH, Binder J, Wöhrle JC, Krauss JK, Hofmann S, Bauer MF, Hennerici MG, Bäzner H
Mov Disord 2004 Oct;19(10):1241-3. doi: 10.1002/mds.20150. PMID: 15390009
Pizzuti A, Fabbrini G, Salehi L, Vacca L, Inghilleri M, Dallapiccola B, Berardelli A
Neurology 2004 Mar 23;62(6):1021-2. PMID: 15037720
Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L
Am J Med Genet 1996 Jul 12;64(1):31-4. doi: 10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U. PMID: 8826445

Prognosis

Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD
J Clin Immunol 2007 Nov;27(6):640-6. Epub 2007 Sep 12 doi: 10.1007/s10875-007-9123-x. PMID: 17851739
Merchant SN, McKenna MJ, Nadol JB Jr, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L
Otol Neurotol 2001 Jul;22(4):506-11. PMID: 11449109
Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D
Nat Genet 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. PMID: 8841189

Clinical prediction guides

Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Mov Disord 2013 Jun;28(6):795-803. Epub 2013 Feb 15 doi: 10.1002/mds.25394. PMID: 23418071
Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS
Mov Disord 2012 Jul;27(8):1034-40. Epub 2012 Jun 26 doi: 10.1002/mds.25033. PMID: 22736418
Arai T, Zhao M, Kanegane H, van Zelm MC, Futatani T, Yamada M, Ariga T, Ochs HD, Miyawaki T, Oh-ishi T
J Hum Genet 2011 Aug;56(8):577-82. Epub 2011 Jul 14 doi: 10.1038/jhg.2011.61. PMID: 21753765
Cacace AT, Pinheiro JM
Audiol Neurootol 2011;16(6):398-413. Epub 2011 Jan 22 doi: 10.1159/000323276. PMID: 21266802
Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I
Neuromuscul Disord 2008 Dec;18(12):979-81. Epub 2008 Oct 25 doi: 10.1016/j.nmd.2008.09.009. PMID: 18952432

Recent systematic reviews

Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS
Mov Disord 2012 Jul;27(8):1034-40. Epub 2012 Jun 26 doi: 10.1002/mds.25033. PMID: 22736418

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