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Since myotonic dystrophy (DM) is a multi-systemic disease, most of patients visit different clinical departments depending on their initial symptoms. However, diagnosis is not easy except neurologists. A part of patients have not been diagnosed as DM until perinatal or perioperative troubles. Therefore, a useful screener for DM is essential to avoid such troubles and to introduce multidisciplinary approach smoothly. As a first step, we evaluated the sensitivity and specificity of physical examination and questionnaire in a small number of patients. In this step we found that well designed questionnaire is comparable to physical examination. Then we planned to assess the sensitivity and specificity of self-questionnaire with nine items (cataract: C, whistle: W, dysphagia: D, head-lift: H, sit-up: S, uncapping: U, drop foot: F, myotonia: M and family history of myopathy). Total 347 subjects including 95 DM, 121 healthy controls (HC) and 131 disease controls (DC) cooperated with this study. Participants answered all questions to their own discretion and no advices were given from medical staffs. Family history was excluded from statistical analysis since many HC were family members of DM. The sensitivities were quite variable among items and exceeded 70% in only three items (S, F, M) in mild DM cases requiring no assistance in daily living. The specificities of all items exceeded 80% in HC and those of three items (H, U, M) surpassed 95%. The specificities were various in DC and exceeded 75% in four items (C, H, U, M) in mild cases. Analyses using receive operating characteristic (ROC) curve revealed that combination of H+U+M had the largest values of area of under the curve. The sensitivity of this combination was 100% in mild DM. The specificity in HC was 98.3% and 69.2% in mild DC. The combination of H+S+U+M had also quite high values. Adding family history to these three or four items, DM patients can be effectively identified. [Copyright &y& Elsevier]

In patients with neuromuscular disorders, microcirculation abnormalities in muscle tissues and angiogenesis affect pathomechanism. A total of 57 patients from 1.3 to 47.7years old with Duchenne muscular dystrophy (DMD), a total of 19 patients from 1.7 to 67.7years old with myotonic dystrophy (DM), a total of 31 patients with spinal muscular atrophy (SMA) from 3.0 to 58.3years old and 14 healthy controls (HC) from 6.9 to 48.7years old participated. We measured peripheral blood levels of circulating CD34+ cells and serum levels of creatine kinase (CK) in all participants, and serum levels of angiogenin and matrix metalloproteinase-9 (MMP-9) in 39 DMD and 13 HC. Levels of CD34+ cells of DMD were 1.94±1.20 count/μl, and those of DM were 0.86±0.47 count/μl, and those of SMA were 1.59±1.16 count/μl, and those of HC were 1.52±0.92 count/μl. Levels of CD34+ cells in DMD and SMA showed higher tendency than HC. Levels of CD34+ cells in DM were significantly lower than others. Levels of CD34+ cells were higher in younger DMD group, but not correlated with CK. In SMA group, cases with unstable respiratory condition showed higher levels of CD34+ cells. Levels of angiogenin in DMD were significantly lower than those in HC (1467.0±524.2pg/ml, 1885.8±325.6pg/ml, respectively), while levels of MMP-9 in DMD were significantly elevated as compared to HC (4.25±2.65ng/ml, 2.90±1.27ng/ml, respectively). Angiogenin and MMP-9 showed higher tendency in elder DMD group, and there was no significant correlation between levels of CD34+ cells and angiogenin or MMP-9 in DMD. Muscle disintegration in DMD and respiratory insufficiency in SMA may be related with CD34+ cells. As a source of angiogenesis factor, circulating CD34+ cells and angiogenin have pivotal role in angiogenesis. CD34+ cells seem to play an important role in pathomechanism in DMD, but angiogenin does not. [ABSTRACT FROM AUTHOR]