Marinesco-Sjogren syndrome

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Marinesco-Sjogren syndrome Classification and external resources
OMIM	248800
DiseasesDB	31430
MeSH	D013132

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

1 Presentation
2 Diagnosis
3 Treatment
4 Eponym
5 References
6 External links

[edit] Presentation

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.

[edit] Diagnosis

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,^[1]^[2] 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.

[edit] Treatment

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.

[edit] Eponym

It is named for Georges Marinesco and Karl Sjögren.^[3]

[edit] References

^ Senderek J, et al. (2005). "Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet 37 (12): 1312–4. doi:10.1038/ng1678. PMID 16282977.
^ Anttonen A, et. al (2005). "The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat Genet 37 (12): 1309–11. doi:10.1038/ng1677. PMID 16282978.
^ synd/1676 at Who Named It