Marinesco-Sjogren syndrome: A genetic disorder characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation.
The disease 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. Growth is poor and pubertal development may not occur because of hypogonadism. Mental retardation is usually mild to moderate in severity. Prolonged survival is possible, but the muscle weakness tends to be progressive.
The syndrome is inherited as an autosomal recessive trait with complete penetrance in both sexes. (Whoever receives two Marinesco-Sjogren genes, one from each parent, manifests the syndrome.) The nature of the genetic defect is unknown (as of 2001). The disease is very rare except in genetic isolates, such as one in rural Alabama. There is a site and support group for the syndrome at: www.marinesco-sjogren.org/