Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomalrecessive disorder.
Presentation
Hair in Marinesco–Sjögren syndrome, showing lack of pigment and medulla
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]
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.[5]
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.[citation needed]
Epidemiology
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]
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN0-7216-2921-0.
^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. PMID16282977. S2CID28860307.
^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. PMID16282978. S2CID33094308.
