Marinesco-Sjogren syndrome


Caption =
DiseasesDB = 31430
ICD10 =
ICD9 =
OMIM = 248800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D013132

Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.


It causes cerebellar ataxia (balance and coordination problems), cataracts in 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 hypogonadism often occur.

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 (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy.

It can be associated with mutations of 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 glycoprotein syndromes, 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 hypogonadism is present.


It is named for Georges Marinesco and Karl Sjögren. [WhoNamedIt|synd|1676]


External links

* [ Marinesco-Sjogren Syndrome Support Group]

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Look at other dictionaries:

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  • Marinesco-Sjogren syndrome — A genetic disorder characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation. The disease is usually evident at birth because of… …   Medical dictionary

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  • síndrome de Marinesco-Sjögren — Eng. Marinesco Sjögren syndrome Síndrome caracterizado por oligofrenia, catarata congénita, ataxia cerebelar, amiotrofia neurógena y degeneración pigmentaria de retina …   Diccionario de oftalmología

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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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