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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, developmental delay, and
sometimes learning disability.
More than 200 cases of MSS have been reported worldwide, but
most cases are no longer reported in the medical literature.
What are the symptoms?
The major features of the condition include:
- developmental delay - delay
in meeting motor milestones (eg sitting without support and
- muscle weakness
- early onset cataracts
- congenital cerebellar ataxia - a
movement condition due to underdevelopment and/or malfunctioning of
the part of the brain controlling movement (cerebellum) causing
unsteadiness and lack of coordination
- dysarthria- problems with speech due to difficulties
controlling the tongue and mouth
- 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
from person to person.
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 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 can be helpful. SIL1 gene testing can
help make a diagnosis, if there is a mutation present. Many other
disorders can resemble MSS, so it is essential to be evaluated by a
geneticist familiar with MSS and similar conditions.
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, speech therapy, and adapted educational
programs. Hormone replacement therapy is also available if there is
hypogonadism - this will help to replace missing hormones and bring
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 provides information and support to adults,
children and families affected by Marinesco-Sjogren Syndrome. It
puts families in touch with one another. The website contains
information that is endorsed by medical professionals.
Group details last updated February 2015.
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