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Marinesco–Sjögren syndrome
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Marinesco–Sjögren syndrome : ウィキペディア英語版
Marinesco–Sjögren syndrome

Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder.
==Presentation==
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.〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕
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.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Marinesco–Sjögren syndrome」の詳細全文を読む



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