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Marinesco-Sjögren Syndrome
How is it diagnosed?
MSS
presents at birth because babies are hypotonic (muscle weakness).
Although the cataracts are not usually present at birth they can
develop quite rapidly in childhood. The diagnosis is usually based on
the symptoms observed but eye examinations to confirm cataracts and a
MRI of the brain to show a frequently small cerebellum can be helpful.
Recently, about 2/3 of the patients with MSS have been found to have
mutations in the SIL1 gene.
What are the symptoms?
| How is it treated? 
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