Although Mohr-Tranebjaerg syndrome is currently incurable, there are various ways to improve quality of life and closely monitor the course of the disease. Early and individually tailored care can help alleviate symptoms and preserve important functions for as long as possible.

Metabolic outpatient clinic

An often underestimated but very important point of contact is the metabolic outpatient clinic. Many metabolic centers care for patients with rare genetic diseases and have experience with diseases affecting the mitochondria or cellular metabolism. The following topics, among others, can be discussed here:

• individual treatment options
• Dietary supplements (e.g., vitamin E)
• Laboratory tests
• Metabolic diagnostics
• Progress checks
• Collaboration with other disciplines

In our experience, this important contact person is unfortunately mentioned far too infrequently.

Cochlear implant (CI)

Since hearing loss is often caused by auditory neuropathy, hearing aids often offer only limited help. A cochlear implant can enable many affected individuals to perceive speech better and improve communication. Whether a CI is a suitable option should be assessed early on at a specialized hearing center.

Physiotherapy

Regular exercise and targeted exercises can help

• to maintain mobility,
• To prevent muscle shortening,
• to promote balance and
• to make everyday life easier.
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Ophthalmology

Regular eye examinations help to detect changes in vision early and to provide appropriate aids.

Individual support

Depending on the course of the illness, other specialties may become important, for example neuropediatrics, neurology, orthopedics, palliative medicine, nutritional counseling, child and adolescent psychiatry, or psychological support for the parents.