Marinescu-Sjögren syndrome Classification and external resources OMIM 248800 DiseasesDB 31430 MeSH D013132
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder.
The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.:578.
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.
Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjögren 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.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ 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?
- mss at NIH/UW GeneTests
- Marinesco-Sjögren Syndrome Support Group
- GeneReview/NIH/UW entry on Marinesco-Sjögren Syndrome
Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulatorsGTPase-activating proteinMarinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1 G proteinARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3) MAP kinase Other kinase/phosphatase Signal transducing adaptor proteins Other This Genodermatoses article is a stub. You can help Wikipedia by expanding it.