Simple questionnaire for screening patients with myotonic dystrophy type 1. Issue 4 (20th June 2014)

• Record Type: Journal Article
• Authors: Matsumura, Tsuyoshi; Kimura, Takashi; Kokunai, Yosuke; Nakamori, Masayuki; Ogata, Katsuhisa; Fujimura, Harutoshi; Takahashi, Masanori P; Mochizuki, Hideki; Sakoda, Saburo
• Is Part Of: Neurology and clinical neuroscience. Volume 2:Issue 4(2014:Jul.)
• Page Start: 97
• Page End: 103
• Publication Date: 2014-06-20
• Subjects: Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.93
• Languages: English
• ISSNs: 2049-4173

Abstract

<abstract abstract-type="main" id="ncn393-abs-0001"> <title>Abstract</title> <sec id="ncn393-sec-0001" sec-type="section"> <title>Background and Aim</title> <p>Myotonic dystrophy type 1 (DM1) is a multisystemic disease, and patients often visit a variety of specialists before being correctly diagnosed. Identifying DM1 is not an easy task, particularly for non‐neurologists. We tried to develop a simple and useful screener to identify DM1.</p> </sec> <sec id="ncn393-sec-0002" sec-type="section"> <title>Methods</title> <p>In the present study, we proposed and refined a simple questionnaire for screening patients with DM1. A preliminary study showed that the sensitivity and specificity of a well‐designed questionnaire was comparable with that of a physical examination. We developed a nine‐item questionnaire that assessed cataract history, dysphagia, myotonia, drop foot, the ability to whistle, lift the head, sit‐up and unscrew a bottle cap, and family history.</p> </sec> <sec id="ncn393-sec-0003" sec-type="section"> <title>Results</title> <p>A total of 95 DM1 patients, 121 healthy controls and 132 disease controls completed the questionnaire. Many healthy controls were family members of DM1 patients; therefore, family history was excluded from statistical analyses. In DM1 patients with mild symptoms, sensitivity exceeded 70% for three items (sit‐up, drop foot, myotonia). In healthy controls, specificity exceeded 70% for all items. Receiver operating characteristic curve analysis showed that the combination of lifting the head, sit‐up, unscrewing a bottle cap and myotonia items had high capability to distinguish DM1 patients with mild symptoms from healthy controls and disease controls with mild symptoms.</p> </sec> <sec id="ncn393-sec-0004" sec-type="section"> <title>Conclusion</title> <p>This simple questionnaire might help to identify DM1 patients.</p> </sec> </abstract>