China
Africa
Explore chapters and articles related to this topic
Genomics and Hearing Loss: Toward a New Standard of Care?
Published in Stavros Hatzopoulos, Andrea Ciorba, Mark Krumm, Advances in Audiology and Hearing Science, 2020
All patterns of genetic inheritance including mitochondrial transmission have been observed in patients with auditory neuropathy spectrum disorder, either in isolated forms or associated with other syndromes, such as Charcot-Marie Tooth, Leber’s hereditary Optic Neuropathy, autosomal dominant optic atrophy, autosomal recessive optic atrophy, Friedreich’s ataxia, and Mohr-Tranebjaerg syndrome (Kim et al., 2004; Wang et al., 2003; Hood and Morlet, 2012).
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Mohr-Tranebjaerg syndrome, also known as deafness-dystonia-optic neuronopathy (DDON) syndrome (Mohr and Mageroy, 1960) is inherited in X-linked recessive pattern, with some female carriers also showing signs of minor neuropathy and mild hearing impairment. DDP (deafness dystonia peptide) protein is involved in the import of nuclear-encoded mitochondrial proteins into the inner mitochondrial membrane (Wallace and Murdock, 1999). Except of deafness, other symptoms may include visual disability leading to cortical blindness, focal, segmental, or multifocal dystonia primarily in the upper body and with progressive generalization, fractures, cortical atrophy predominantly in the parieto-occipital cortex, and mental deficiency (Tranebjaerg et al., 1995). The dystonia with age of onset ranging from the first to the fourth decade tends to be focal, segmental, or multifocal at onset with progressive generalization (Ujike et al., 2001). Another protein linked with MTS is translocase of mitochondrial inner membrane 8A (TIMM8A). Mutation in TIMM8A also underlies a distinct disorder called Jensen syndrome (Tranebjaerg et al., 2001).
Deep brain stimulation for childhood dystonia: current evidence and emerging practice
Published in Expert Review of Neurotherapeutics, 2018
Lior M. Elkaim, Phillippe De Vloo, Suneil K. Kalia, Andres M. Lozano, George M. Ibrahim
DBS for deafness-dystonia has been reported in a similar number of pediatric patients, but in contrast induced significant benefit. The first patient had a clinical phenotype consistent with Mohr-Tranebjaerg syndrome (MTS), although no genetic mutations were detected [95]. The patient demonstrated sustained, 80% improvement in BFM motor score after GPi-DBS over a 4-year reported follow-up. Similar outcome was seen in a child with genetically confirmed MTS syndrome, who showed 64% BFM motor improvement along with improvements in speech and quality of life [96].