Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is a rare genetic disorder primarily affecting males and characterized by a combination of hearing loss, movement problems (dystonia), vision impairment, and behavioral issues.
Here's a breakdown of the key features:
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Hearing Loss: Typically begins early in life and is progressive.
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Dystonia: Involuntary muscle contractions that cause repetitive or twisting movements.
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Optic Neuronopathy: Damage to the optic nerve, leading to impaired vision.
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Behavioral Problems: Can include changes in personality and other neurological symptoms.
Because it is almost exclusively found in males, it is believed to be caused by a mutation in a gene on the X chromosome.
