Mohr–Tranebjaerg syndrome

Mohr–Tranebjaerg syndrome (MTS), also known as Deafness–dystonia–optic neuronopathy syndrome, is a rare X-linked recessive syndromic hearing loss and degenerative disorder of the nervous system. The syndrome is characterized by postlingual sensorineural deafness in early childhood, followed by dystonia, spasticity, dysphagia and optic atrophy. The syndrome is caused by mutations in the TIMM8A gene.

Symptoms

The first symptom of Mohr–Tranebjaerg syndrome is usually hearing loss, which begins in early childhood and is caused by changes (mutations) in the TIMM8A gene. This is followed by problems with movement, including tremors, dystonia, and spasticity. Some people with this condition may also have dysphagia (difficulty swallowing) and optic atrophy (loss of vision).

Causes

Mohr–Tranebjaerg syndrome is caused by mutations in the TIMM8A gene. This gene provides instructions for making a protein that is involved in the transport of proteins into the mitochondria, the energy-producing centers of cells. Mutations in the TIMM8A gene disrupt this process, leading to a variety of symptoms.

Diagnosis

The diagnosis of Mohr–Tranebjaerg syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include hearing tests, genetic testing, and imaging studies such as MRI and CT scans.

Treatment

There is currently no cure for Mohr–Tranebjaerg syndrome. Treatment is symptomatic and supportive, and may include hearing aids, speech therapy, physical therapy, and other interventions to help manage symptoms.

See also

• TIMM8A
• Dystonia
• Spasticity
• Dysphagia
• Optic atrophy

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