Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare genetic disorder characterized by cerebellar ataxia, cataracts, intellectual disability, and progressive muscle weakness. The syndrome is named after the Romanian neurologist George Marinesco and the Swedish ophthalmologist Henrik Sjögren.

Symptoms and Signs

The most common symptoms of Marinesco-Sjögren syndrome include cerebellar ataxia, which affects balance and coordination, and cataracts, which cloud the lens of the eye and can lead to vision loss. Other symptoms include intellectual disability, muscle weakness, and dysarthria, which is difficulty speaking due to muscle weakness.

Causes

Marinesco-Sjögren syndrome is caused by mutations in the SIL1 gene. This gene provides instructions for making a protein that is found in cells throughout the body, including nerve cells in the brain and muscle cells. The SIL1 protein helps to fold and unfold other proteins, which is necessary for their proper function. Mutations in the SIL1 gene disrupt this process, leading to the symptoms of Marinesco-Sjögren syndrome.

Diagnosis

Diagnosis of Marinesco-Sjögren syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing. Genetic testing can identify mutations in the SIL1 gene.

Treatment

There is currently no cure for Marinesco-Sjögren syndrome. Treatment is focused on managing the symptoms and may include physical therapy for muscle weakness, speech therapy for dysarthria, and surgery to remove cataracts.

Prognosis

The prognosis for individuals with Marinesco-Sjögren syndrome varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe symptoms and have a shortened lifespan.

See Also

• Cerebellar ataxia
• Cataracts
• Intellectual disability
• Muscle weakness
• Dysarthria
• Genetic testing
• SIL1 gene

Marinesco-Sjögren syndrome Resources
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