Badalian L O, Iadgarov I S, Arkhipov B A, Temin P A, Bulaeva N V, Nurmatov Ia I, Melkumova I A
Zh Nevropatol Psikhiatr Im S S Korsakova. 1990;90(3):6-9.
A family in which 9 persons in three generations suffered from "pure" Strümpell's disease is described. The disease made is debut in early childhood and was characterized by slightly marked intrafamilial polymorphism. An electromyographic study was made. It has been proved that the pattern described is a "pure" disease variety inherited by the autosomal dominant type, with an early development of the clinical manifestations and slow progress of motor disturbances (up to 25 years). The nosology of the given disease pattern is under discussion.
本文描述了一个三代人中9人患“单纯型”施特吕姆佩尔病的家族。该病在儿童早期发病,家族内表现出轻微的多态性。进行了肌电图研究。已证实所描述的模式是一种常染色体显性遗传的“单纯型”疾病变种,临床表现早期出现,运动障碍进展缓慢(长达25年)。该疾病模式的分类学正在讨论中。