Myotonic Dystrophy,Congenital

《英文msh詞典》Myotonic Dystrophy,Congenital
[同義詞] Myotonic Dystrophy,Congenital
[主題詞] Myotonic Dystrophy
[中文釋義] 肌強直,營養不良性,先天性
[英文釋義] An autosomal dominant neuromuscular disorder which usually presents in early adulthood,characterized by progressive muscular atrophy (most frequently involving the hands,forearms,and face),myotonia,frontal baldness,lenticular opacities,and testicular atrophy. Cardiac conduction abnormalities,diaphragmatic weakness,and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder,characterized by neonatal MUSCLE HYPOTONIA,feeding difficulties,respiratory muscle weakness,and an increased incidence of MENTAL RETARDATION. (From Adams et al.,Principles of Neurology,6th ed,pp1423-5; Joynt,Clinical Neurology,1997,Ch16,pp16-7)