General description

Marinesco-Sjögren syndrome is a rare autosomal recessive disorder characterized by a combination of clinical symptoms. Key features include cerebellar ataxia, leading to difficulties with balance and coordination, and early-onset cataracts, which typically develop in infancy or early childhood. Patients often experience progressive muscle weakness, particularly in the lower extremities, along with hypotonia. Intellectual disability, ranging from mild to moderate, is common, as are speech impairments such as dysarthria and involuntary eye movements (nystagmus). Skeletal abnormalities, including short stature and scoliosis, may also be present. Additionally, hypergonadotropic hypogonadism can result in delayed or absent puberty.