Name = PAGENAME
DiseasesDB = 31430
OMIM = 248800
MeshID = D013132
Marinesco-Sjogren syndrome (MSS) is a rare
It causes cerebellar
ataxia(balance and coordination problems), cataractsin 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
Muscle weakness is progressive, but life expectancy is near normal.
Diagnosis of MSS is based on clinical symptoms,
magnetic resonance imaging(MRI) of the brain ( cerebellaratrophy particularly involving the cerebellar vermis), and muscle biopsy.
It can be associated with
mutationsof the SIL1 gene, [cite journal |author=Senderek J, et al. |title=Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy |journal=Nat Genet |volume=37 |issue=12 |pages=1312–4 |year=2005 |pmid=16282977 |doi=10.1038/ng1678] [cite journal |author=Anttonen A, et. al |title=The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone |journal=Nat Genet |volume=37 |issue=12 |pages=1309–11 |year=2005 |pmid=16282978 |doi=10.1038/ng1677] 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
glycoproteinsyndromes, Lowe syndrome, and mitochondrial disease.
Treatment 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 hypogonadismis present.
It is named for
Georges Marinescoand Karl Sjögren. [WhoNamedIt|synd|1676]
* [http://www.marinesco-sjogren.org Marinesco-Sjogren Syndrome Support Group]
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Look at other dictionaries:
Marinesco–Sjögren syndrome — Marinescu Sjögren syndrome Classification and external resources OMIM 248800 DiseasesDB 31430 MeSH … Wikipedia
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Sjögren — Henrik C., Swedish ophthalmologist, 1899–1986. See S. disease, S. syndrome, Gougerot S. disease. Torsten, Swedish physician, 1859–1939. See S. Larsson syndrome, Torsten S. syndrome, Marinesco S. syndrome … Medical dictionary
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