What is Marinesco-Sjögren Syndrome

Marinesco-Sjögren Syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including cerebellar ataxia, cataracts, intellectual disability, and muscle weakness. The syndrome was first described by Marinesco and Sjögren in the 1930s.

The most prominent feature of Marinesco-Sjögren Syndrome is the progressive deterioration of the cerebellum, the part of the brain responsible for coordinating movement. This leads to difficulties with balance, coordination, and muscle control. Individuals with the syndrome often experience unsteady gait, tremors, and muscle stiffness.

Cataracts are another hallmark of the syndrome, typically appearing in early childhood. These clouding of the lens in the eye can cause blurred vision and, if left untreated, may lead to visual impairment.

Intellectual disability is common in individuals with Marinesco-Sjögren Syndrome, ranging from mild to severe. It can affect cognitive abilities, learning, and development.

Other features of the syndrome may include short stature, delayed puberty, skeletal abnormalities, and impaired speech.

Marinesco-Sjögren Syndrome is caused by mutations in the SIL1 gene, which plays a role in protein folding and cellular stress response. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected.

Management of Marinesco-Sjögren Syndrome involves a multidisciplinary approach to address the various symptoms and complications. Treatment options may include physical therapy, occupational therapy, cataract surgery, and supportive care to optimize quality of life.