Mohr-Tranebjaerg syndrome

Also Known As:

Deafness (DFN-1) dystonia, mental deficiency and blindness; Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency; Deafness dystonia syndrome; Deafness-Dystonia Syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; Deafness-dystonia-optic atrophy syndrome; Dystonia-Deafness Syndrome; Mohr-Tranebjærg Syndrome

Networked: 25 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dystonia (Limb Dystonia)
2.	Deafness (Deaf Mutism)
3.	Mohr-Tranebjaerg syndrome
4.	Mitochondrial Diseases (Mitochondrial Disease)
5.	Neurodegenerative Diseases (Neurodegenerative Disease)

Experts

1.	Tranebjaerg, Lisbeth: 3 articles (09/2004 - 03/2002)
2.	Bauer, M F: 3 articles (10/2001 - 01/2000)
3.	Brunner, M: 3 articles (10/2001 - 01/2000)
4.	Neupert, W: 3 articles (10/2001 - 01/2000)
5.	Aguirre, Luis A: 2 articles (12/2008 - 02/2006)
6.	Moreno, Felipe: 2 articles (12/2008 - 02/2006)
7.	Moreno-Pelayo, Miguel A: 2 articles (12/2008 - 02/2006)
8.	Villamar, Manuela: 2 articles (12/2008 - 02/2006)
9.	del Castillo, Ignacio: 2 articles (12/2008 - 02/2006)
10.	Koehler, Carla M: 2 articles (09/2004 - 03/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mohr-Tranebjaerg syndrome:

1.	Peptides (Polypeptides)IBA 10/01/2004 - "Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. " 12/01/2001 - "In the most extensively studied Norwegian family, the Mohr-Tranebjaerg syndrome was reported to be caused by a one-basepair deletion (151delT) in the deafness/dystonia peptide (DDP) gene at Xq22. " 10/01/2001 - "Sex-linked male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene. " 10/01/2001 - "A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome." 07/15/2007 - "Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene."
2.	Proteins (Proteins, Gene)FDA Link 03/02/1999 - "The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. " 01/01/2000 - "This review discusses recent advances in understanding the structure and function of the translocases of the inner membrane and the possible role of Tim proteins in the development of the Mohr-Tranebjaerg syndrome, a mitochondrial disorder leading to neurodegeneration." 01/01/2007 - "The deafness-dystonia syndrome (DDS) or Mohr-Tranebjaerg syndrome (MTS, MIM 304700) is a rare X-linked recessive neurological disorder resulting from loss-of-function mutations in the nuclear DDP1/TIMM8A gene, involved in the transport and sorting of proteins to the mitochondrial inner membrane. " 09/15/2004 - "Mohr-Tranebjaerg syndrome (MTS/DFN-1, deafness/dystonia syndrome) results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a) and loss of the 70 kDa complex. " 03/01/2002 - "Mohr-Tranebjaerg syndrome (MTS/DFN-1) or deafness/dystonia syndrome results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a). "
3.	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/01/2009 - "Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery. " 03/02/1999 - "The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system." 12/01/2008 - "A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes." 02/15/2006 - "A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome."
4.	DNA (Deoxyribonucleic Acid)IBA 09/01/2002 - "An archival human temporal bone specimen from a male patient with the Mohr-Tranebjaerg syndrome (formerly called DFN-1) and a well-characterized mutation was analyzed for the presence of the mutation by a standard method for extraction, isolation, amplification, and sequencing of deoxyribonucleic acid. " 07/01/2012 - "Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome. "
5.	Actins (F Actin)IBA 01/01/2017 - "The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. " 01/01/2017 - "Although beta-actin gene mutations are generally associated with developmental Baraitser-Winter syndrome, dystonia-deafness syndrome has been reported once in identical twin brothers. " 01/01/2017 - "After exclusion of known dystonia-deafness syndrome causes, whole-exome sequencing revealed a beta-actin gene mutation (p.Arg183Trp) in both patients. " 01/01/2017 - "To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. " 01/01/2018 - "We hypothesize that the pleiotropic manifestations of the dystonia-deafness syndrome caused by this mutation derive from diverse developmental functions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). "
6.	NucleotidesIBA 10/01/2001 - "We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. "
7.	GuanineIBA 10/01/2001 - "We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. "
8.	Codon (Codons)IBA 10/01/2001 - "We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. "
9.	AcidsIBA 10/01/2001 - "We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. "
10.	Mitochondrial Precursor Protein Import Complex ProteinsIBA 10/05/2001 - "Thus, the pathomechanism underlying the Mohr-Tranebjaerg syndrome may involve an impaired biogenesis of the human TIM23 complex causing severe pleiotropic mitochondrial dysfunction."

Therapies and Procedures

1.	Deep Brain Stimulation 11/01/2022 - "We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. " 01/01/2017 - "Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation." 09/01/2023 - "Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia." 01/01/2019 - "Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants." 06/01/2013 - "Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation."
2.	Cochlear Implants (Cochlear Implant) 01/01/2019 - "Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants." 06/01/2013 - "Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation."