Marinesco–Sjögren syndrome
(Redirected from Marinesco-Sjogren Syndrome-Myopathy)
Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal recessive disorder.
Presentation[edit | edit source]
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.[1]: Template:R/where
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 | edit source]
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Diagnosis[edit | edit source]
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 | edit source]
DDx includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco–Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
Treatment[edit | edit source]
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 | edit source]
It is named for Gheorghe Marinescu and Torsten Sjögren.[4]
See also[edit | edit source]
References[edit | edit source]
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0 .
- ↑
- ↑
- ↑ synd/1676 at Who Named It?
Further reading[edit | edit source]
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