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Marinesco-Sjögren Syndrome
What are the symptoms?
Cerebellar Ataxia causes a lack of co-ordination as seen in other conditions (e.g Friedreich’s Ataxia, Ataxia telangiectasia). There are other conditions that resemble MSS.
A
child with MSS will have delays in reaching the motor milestones (e.g
sitting without support and crawling) and ataxia will become very
evident by the time the child is able to sit up. Growth is often poor
and pubertal development may not occur due to hypogonadism. Mental
retardation can be mild or severe or the child may have no intellectual
impairment at all.
Although many adults with MSS are severely disabled, life span seems to be near normal and some individuals will be able to walk with assistance. Other adults have had slowly progressive muscle weakness and are in wheelchairs.
Background
| How is it diagnosed? 
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