Nojszewska Monika, Łusakowska Anna, Szmidt-Salkowska Elżbieta, Gaweł Małgorzata, Lipowska Marta, Sułek Anna, Krysa Wioletta, Rajkiewicz Marta, Seroka Andrzej, Kaczmarek Katarzyna, Kamińska Anna M
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Neurol Neurochir Pol. 2015;49(3):164-70. doi: 10.1016/j.pjnns.2015.04.008. Epub 2015 May 6.
Multisystem manifestations of myotonic dystrophies type 1 (DM1) and 2 (DM2) are well known. Peripheral nerve involvement has been reported in DM1 but not in genetically confirmed DM2. The aim of our study was to assess peripheral nerve involvement in DM2 using nerve conduction studies and to compare these results with findings in DM1.
We prospectively studied patients with genetically confirmed DM2 (n=30) and DM1 (n=32). All patients underwent detailed neurological examination and nerve conduction studies.
Abnormalities in electrophysiological studies were found in 26.67% of patients with DM2 and in 28.13% of patients with DM1 but the criteria of polyneuropathy were fulfilled in only 13.33% of patients with DM2 and 12.5% of patients with DM1. The polyneuropathy was subclinical, and no correlation was found between its presence and patient age or disease duration.
Peripheral nerves are quite frequently involved in DM2, but abnormalities meeting the criteria of polyneuropathy are rarely found. The incidence of peripheral nerve involvement is similar in both types of myotonic dystrophy.
1型强直性肌营养不良（DM1）和2型强直性肌营养不良（DM2）的多系统表现已广为人知。DM1中已有外周神经受累的报道，但在基因确诊的DM2中未见相关报道。我们研究的目的是通过神经传导研究评估DM2中外周神经的受累情况，并将这些结果与DM1中的发现进行比较。
我们对基因确诊的DM2患者（n = 30）和DM1患者（n = 32）进行了前瞻性研究。所有患者均接受了详细的神经系统检查和神经传导研究。
DM2患者中有26.67%以及DM1患者中有28.13%的电生理研究结果异常，但仅13.33%的DM2患者和12.5%的DM1患者符合多发性神经病的标准。该多发性神经病为亚临床型，其存在与患者年龄或病程之间未发现相关性。
外周神经在DM2中相当常见受累，但符合多发性神经病标准的异常情况很少见。两种类型的强直性肌营养不良中外周神经受累的发生率相似。
