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Simple questionnaire for screening patients with myotonic dystrophy type 1
Author(s) -
Matsumura Tsuyoshi,
Kimura Takashi,
Kokunai Yosuke,
Nakamori Masayuki,
Ogata Katsuhisa,
Fujimura Harutoshi,
Takahashi Masanori P,
Mochizuki Hideki,
Sakoda Saburo
Publication year - 2014
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.93
Subject(s) - medicine , myotonic dystrophy , family history , myotonia , dash , physical therapy , physical examination , neuromuscular disease , medical history , disease , pediatrics , computer science , operating system
Background and Aim Myotonic dystrophy type 1 ( DM 1) is a multisystemic disease, and patients often visit a variety of specialists before being correctly diagnosed. Identifying DM 1 is not an easy task, particularly for non‐neurologists. We tried to develop a simple and useful screener to identify DM 1. Methods In the present study, we proposed and refined a simple questionnaire for screening patients with DM 1. 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. Results A total of 95 DM 1 patients, 121 healthy controls and 132 disease controls completed the questionnaire. Many healthy controls were family members of DM 1 patients; therefore, family history was excluded from statistical analyses. In DM 1 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 DM 1 patients with mild symptoms from healthy controls and disease controls with mild symptoms. Conclusion This simple questionnaire might help to identify DM 1 patients.