Marinesco–Sjögren syndrome
Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal recessive disorder.
| Marinesco–Sjögren syndrome | |
|---|---|
| Child with Marinesco–Sjögren syndrome | |
| Specialty | Neurology, medical genetics |
Presentation edit
The syndrome causes cerebellar ataxia (balance and coordination problems), intellectual disability, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.[1]: 578
Small stature, mild to severe intellectual disability 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.[citation needed]
Cause edit
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Diagnosis edit
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,[2][3] and a mutation can be found in about 50% of cases.
Differential diagnosis edit
DDx includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco–Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
Marinesco–Sjögren-like syndrome is a very rare genetic disorder which is characterized by symptoms similar to those shown by people with Marinesco–Sjögren syndrome, the symptoms (of this variant of MSS) being infantile hypotonia, ataxia, cataracts, intellectual disabilities, cerebellar atrophy, myopathic alterations, vascular degeneration, and adipose tissue proliferation.[4]
Treatment edit
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.[citation needed]
Eponym edit
It is named for Gheorghe Marinescu and Torsten Sjögren.[5]
High-frequency populations edit
Members of the MOWA Band of Choctaw Indians, a state-recognized tribe located in southwest Alabama, have a high frequency of Marinesco–Sjögren syndrome and have been the subject of study.[6][7] They are the only known population in the United States to suffer from the rare disease.[8]
See also edit
References edit
- ^ 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. S2CID 28860307.
- ^ 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. S2CID 33094308.
- ^ "Marinesco-Sjogren-like syndrome (MSLS) - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-01.
- ^ synd/1676 at Who Named It?
- ^ Georgy, B. A.; Snow, R. D.; Brogdon, B. G.; Wertelecki, W. (1 February 1998). "Neuroradiologic findings in Marinesco-Sjögren syndrome". American Journal of Neuroradiology. 19 (2): 281–283. ISSN 0195-6108. PMC 8338194. PMID 9504478. Retrieved 12 November 2022.
- ^ Superneau, D. W.; Wertelecki, W.; Zellweger, H.; Bastian, F. (1987). "Myopathy in Marinesco-Sjogren syndrome". European Neurology. 26 (1): 8–16. doi:10.1159/000116305. ISSN 0014-3022. PMID 3469098. Retrieved 12 November 2022.
- ^ Stoffle, Richard (1 February 2014). The New Encyclopedia of Southern Culture: Volume 6: Ethnicity. UNC Press Books. ISBN 978-1-4696-1658-2. Retrieved 12 November 2022.
Further reading edit
- Ichhaporia VP, Kim J, Kavdia K, et al. (2018). "SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology". Dis. Models Mech. 11 (5): dmm033043. doi:10.1242/dmm.033043. PMC 5992605. PMID 29666155.
- Ichhaporia VP, Sanford T, Howes J, et al. (2015). "Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion". Mol Biol Cell. 26 (3): 420–9. doi:10.1091/mbc.E14-09-1392. PMC 4310734. PMID 25473114.