disease: Marinesco-Sjögren syndrome

nameMarinesco-Sjögren syndrome
descriptionMarinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.
variant-disease NM_022464.5(SIL1):c.331C>T (p.Arg111Ter) AND Marinesco-Sjögren syndrome
NM_022464.5(SIL1):c.*68del AND Marinesco-Sjögren syndrome
NM_022464.5(SIL1):c.900C>T (p.Phe300=) AND Marinesco-Sjögren syndrome
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val) AND Marinesco-Sjögren syndrome
NM_022464.5(SIL1):c.-29C>G AND Marinesco-Sjögren syndrome
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