When complexed with other small TIMM proteins, they act as chaperones guiding nuclear encoded proteins across the intermembrane space to then pass through the internal mitochondrial membrane. The TIMM8A protein localizes to the mitochondria’s intermembrane space to function as a Translocase of the Inner Mitochondrial Membrane (TIMM). TIMM8A encodes for a mitochondrial protein of the same name. TIMM8A, located on Xq22.1, is the gene implicated in the development of DDON. Females may be affected as obligate carriers and typically present with fewer, less prominent clinical symptoms. Males are predominately affected by DDON due to its X-Linked recessive inheritance pattern. This disorder is not limited to individuals of Northern European descent and has been identified in populations across the world, including those of Chinese, Japanese, Filipino, Spanish, and African American ethnicity. The last comprehensive tally of with DDON occurred in 2012 and cited 91 patients from 37 families. First described within multiple generations of a single Norwegian family in 1960, scientific literature continues to identify case reports and novel variants regularly. EpidemiologyĪs a rare genetic condition, DDON’s exact prevalence is currently unknown. Note the deliberate use of the term neuronopathy to reflect the pathological loss of neuronal bodies within the CNS rather than neuropathy, which denotes a functional disruption of the peripheral nervous system. 3 Management, Therapeutic Considerations, and Prognosisĭeafness-Dystonia-Optic Neuronopathy (DDON) is a rare neurodegenerative syndrome hallmarked by early childhood sensorineural hearing loss and the sequential onset of a movement disorder during adolescence, a decline in visual function as a young adult, and dementia occurring by middle age.ĭeafness-Dystonia-Optic Neuronopathy (DDON), formerly known as Mohr-Tranebjaerg Syndrome, encompasses conditions previously thought to be separate entities: Opticoacoustic nerve atrophy (Jensen syndrome) and deafness-dystonia syndrome.2.5 Establishing a Genetic Diagnosis of DDON.
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