Simple questionnaire for screening patients with myotonic dystrophy type 1

Autor: Tsuyoshi Matsumura, Masanori P. Takahashi, Harutoshi Fujimura, Hideki Mochizuki, Yosuke Kokunai, Takashi Kimura, Katsuhisa Ogata, Saburo Sakoda, Masayuki Nakamori
Rok vydání: 2014
Předmět:
Zdroj: Neurology and Clinical Neuroscience. 2:97-103
ISSN: 2049-4173
DOI: 10.1111/ncn3.93
Popis: Background and Aim 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. Methods 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. Results 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. Conclusion This simple questionnaire might help to identify DM1 patients.
Databáze: OpenAIRE
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