[Polymorphism of Charcot-Marie-Tooth neural amyotrophy in uniovular twins].
The paper is concerned with a description of an atypical clinical picture of Charcot-Marie-Tooth neuronal amyotrophy in 2 eight-year old monozygotic twins. The traits of the disease were characterized by a deformation of the feet, mild cerebellar symptoms, development of ptosis and other myopathical symptoms, an enlargement of the transversal nerve of the neck and a distribution of the process to the proximal parts. The diagnosis was confirmed by EMG studies. The authors detected a large amount of abortive signs in many members of the family both along the mothers, as well as fathers line. This observation demonstrates clinical and genetical polymorphism of neuronal amyotraphy.
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004200:Diseases in Twins; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D014427:Twins; D014430:Twins, Monozygotic
O polimorfizme nevral'noĭ amiotrofii Sharko-Mari-Tuta u odnoiaĭtsevykh bliznetsov.