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Also known as:
Hereditary Oligophrenic Cerebellolental Degeneration, Marinesco-Sjögren-Garland syndrome, Cataract-oligophrenia, Torsten Sjögren, Marinesco-Garland syndrome
Marinesco-Sjögren syndrome (MSS) is a rare genetic condition
that affects many body systems. Children with the condition may
have visual problems including cloudiness of the lens (cataracts), muscle
weakness, difficulty coordinating movements and sometimes learning
Currently more than 200 cases of MSS have been reported
What are the symptoms?
The major features of the condition include:
- developmental delay - delay in meeting motor milestones (eg
sitting without support and crawling)
- muscle weakness
- early onset cataracts
- congenital cerebellar ataxia - a movement
condition due to underdevelopment of the part of the brain
controlling movement (cerebellum) causing unsteadiness and lack of
- short stature (height)
- hypergonadotrophic hypogonadism (underactive sexual organs)
causing a lack of development at puberty.
- learning disability - in some but not all children.
The extent to which people are affected by the condition varies
What are the causes?
Changes (mutations) in the SIL1 gene cause MSS. The SIL1 gene
provides instructions for producing a protein located in a cell
structure called the endoplasmic reticulum. Among its many
functions, the endoplasmic reticulum folds and modifies newly
formed proteins so they have the correct shape. The SIL1 protein
plays a role in the process of protein folding. Incorrectly folded
proteins could accumulate in cells and it is likely damages and
destroys cells in many different parts of the body leading to the
symptoms of MSS.
Around a third of people with MSS syndrome do not have
identified mutations in the SIL1 gene. In these cases, the cause of
the condition is unknown.
How is it diagnosed?
MSS is obvious at birth because babies are hypotonic (have
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 magnetic resonance imaging (MRI)
scan of the brain to show a frequently small cerebellum can be
helpful. SIL1 gene testing can help make a diagnosis, if there is a
How is it treated?
Treatment of MSS involves alleviating the symptoms a child
experiences as much as possible. This can involve, for example
removal of the cataracts through surgery, physical therapy to help
movement problems. Hormone replacement therapy is also available if
there is hypogonadism - this will help to replace missing hormones
and bring on puberty.
Inheritance patterns and prenatal diagnosis
MSS is inherited in an autosomal recessive manner.
This is available if the mutation in an affected family has been
Is there support?
Marinesco-Sjogren syndrome online support network
This small network was established in 2000. It is moderated and
refers affected adults, children and their families to relevant and
trusted sources of information. It also puts families in touch with
one another. Their website has information on this condition
endorsed by medical professionals. Parents without internet access
should telephone Contact a Family's freephone helpline on 0808 808
Group details last confirmed January 2013.
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