Marinesco-Sjogren syndrome can be related with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases.
Marinesco-Sjögren syndrome is a unusual autosomal recessive disorder characterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. The illness is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Mental retardation is usually mild to moderate in severity.
Prolonged survival is possible, but the muscle weakness tends to be progressive. The syndrome is genetic as an autosomal recessive trait with complete penetrance in both sexes. The disorder occurs in patients of diverse ethnic backgrounds. The disease is very unusual except in inherited isolates, such as one in rural Alabama. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Growth is poor and pubertal development may not occur because of hypogonadism. Children with MSS usually present with muscular hypotonia in early infancy.
Symptoms of MSS are a loss of muscle coordination as a result of an affect on the cerebellum, cloudiness of the eyes' lenses (cataracts), increased muscle tension, progressive muscle weakness, short stature, and mental deficits. Treatment for Marinesco-Sjogren syndrome is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the primary decade of life. Hormone replacement therapy is required if hypogonadism is present. Hormone replacement therapy for primary gonadal failure at the expected time of puberty.
