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Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder. Additional recommended knowledge
PresentationIt 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. DiagnosisDiagnosis 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. TreatmentTreatment for MSS 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 first decade of life. Hormone replacement therapy is needed if hypogonadism is present. References
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Marinesco-Sjogren_syndrome". A list of authors is available in Wikipedia. |