Detailed Information on Marinesco-Sjogren syndrome (MSS)

Marinesco-Sjogren syndrome (MSS) is a rare disorder that is genetic as an autosomal recessive genetic condition. The main accentuates of this disorder are a loss of muscle coordination as a effect of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes' lenses (cataracts), improved muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits. Marinesco-Sjogren syndrome is characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation.

It can be related with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases. Marinesco-Sjogren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease. Children with MSS generally present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, and dysarthria become apparent. Motor function worsens progressively for some years, and then stabilizes at an unpredictable age and degree of severity.

Cataracts can develop speedily and typically need lens extraction in the first decade of life. The syndrome is inherited as an autosomal recessive trait with complete penetrance in both sexes. The disease is very rare except in genetic isolates, such as one in rural Alabama. 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 needed if hypogonadism is present.

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