Mohr-Tranebjaerg syndrome (MTS) is a very rare, genetic disorder. It is caused by mutations in the TIMM8A gene, which is located on the X chromosome. The disorder primarily affects the nervous system. As a result, hearing, vision, mobility, and other bodily functions can change over the course of a person's life.
Every person with MTS develops differently. Therefore, there is no typical disease course.
In many children, progressive hearing loss is one of the first signs of the condition. This often begins in early childhood. Since the cause is usually auditory neuropathy, hearing aids often offer only limited help. A cochlear implant can be a useful support in some cases.
Over time, the optic nerve can change. This can lead to a gradual decline in vision. How quickly this happens, and whether it happens at all, varies greatly.
Many people with this condition develop difficulties with movement over the course of their lives. These can include balance problems, coordination difficulties, or involuntary muscle movements. Physiotherapy and regular exercise can help maintain existing abilities for as long as possible.
Development and behavior can also be affected. Some children need additional support with learning or development. Not all affected children show the same symptoms or experience the same course of the disease.
In a small number of affected individuals, there is also a mutation in the BTK gene . This can lead to X-linked agammaglobulinemia (XLA) . This results in immunodeficiency and necessitates regular medical monitoring.
Mohr-Tranebjaerg syndrome manifests differently in each individual. The children and adults we know develop in very different ways. Some show a relatively stable course for many years, while others become increasingly dependent on medical and nursing support as their lives progress. This is precisely why individualized support is so important.
We use cookies and external services to improve our website. You can adjust your selection at any time. Learn more
