翻訳と辞書 Words near each other ・ Congo (chimpanzee) ・ Congo (film) ・ Congenital cataract ・ Congenital chloride diarrhea ・ Congenital clasped thumb ・ Congenital contractural arachnodactyly ・ Congenital contractural arachnodactyly in cattle ・ Congenital cutaneous candidiasis ・ Congenital cytomegalovirus infection ・ Congenital dermal sinus ・ Congenital diaphragmatic hernia ・ Congenital disorder ・ Congenital disorder of glycosylation ・ Congenital disorder of glycosylation type IIc ・ Congenital disorders of amino acid metabolism ・ Congenital distal spinal muscular atrophy ・ Congenital dyserythropoietic anemia ・ Congenital dyserythropoietic anemia type I ・ Congenital dyserythropoietic anemia type II ・ Congenital dyserythropoietic anemia type III ・ Congenital dyserythropoietic anemia type IV ・ Congenital epulis ・ Congenital erosive and vesicular dermatosis ・ Congenital estrogen deficiency ・ Congenital fiber type disproportion ・ Congenital fibrosis of the extraocular muscles ・ Congenital fourth nerve palsy ・ Congenital generalized lipodystrophy ・ Congenital hearing loss ・ Congenital heart defect Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Congenital distal spinal muscular atrophy ： ウィキペディア英語版 Congenital distal spinal muscular atrophy Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the ''TRPV4'' gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved. ==Signs and symptoms== *Neurogenic muscle weakness *Atrophy (of lower and upper limbs) *Club foot *Arthrogryposis *Scoliosis *Platyspondyly *Pes cavus *Vocal cord paralysis 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「Congenital distal spinal muscular atrophy」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.