Format

Send to:

Choose Destination

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

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.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center