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Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.
It causes cerebellar ataxia (balance and coordination problems), cataracts in early childhood, and muscle weakness.
Small stature, mild to severe mental retardation and dysarthria (slow, imprecise speech) are usually present.
Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur.
Muscle weakness is progressive, but life expectancy is near normal.
Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy.
It can be associated with mutations of the SIL1 gene,[1][2] and a mutation can be found in about 50% of cases.
Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjogren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
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