Kikuchi Shin, Kozuka Naoki, Uchida Eiji, Ninomiya Takafumi, Tatsumi Haruyuki, Takeda Hidekatsu, Tachi Nobutada
Department of Anatomy 1, Sapporo Medical University School of Medicine, South 1, West 17, Chuo-ku, Sapporo 060-8556, Japan.
School of Health Sciences, Sapporo Medical University, South 1, West 17, Chuo-ku, Sapporo 060-8556, Japan.
J Jpn Phys Ther Assoc. 2008;11(1):23-7. doi: 10.1298/jjpta.11.23.
Myotonic dystrophy (MyD) is a neuromuscular disease that is autosomal dominant and the most common form of muscular dystrophy affecting adults. The clinical features of MyD include a multisystemic disorder characterized by myotonia, progressive muscle weakness and wasting, cataracts, premature balding and mental retardation. The most severe type of MyD is classified as congenital MyD (CMyD). The muscle weakness in CMyD is very severe, but muscle development can be observed in the period of growth. However, no clinical case of this type has been reported yet. Therefore, we report on a girl with CMyD who had an increase in muscle strength over a four-year period. The girl with CMyD participated in this study from the age of 9 to the age of 12. The measurement of muscle strength was recorded as the maximum score of grip strength with the use of dynamometers. Grip strength was assessed once a year by the same two physical therapists. Grip strength of CMyD for each year was markedly weak when compared with the normal controls, but muscle strength changed within some specific growth areas. The muscle weakness in CMyD was remarkable, but the result showed that specific muscle strength of CMyD in childhood was actually increased.
强直性肌营养不良（MyD）是一种常染色体显性遗传的神经肌肉疾病，也是影响成年人的最常见的肌肉营养不良形式。MyD的临床特征包括一种多系统疾病，其特点为肌强直、进行性肌肉无力和萎缩、白内障、早秃和智力发育迟缓。最严重的MyD类型被归类为先天性MyD（CMyD）。CMyD中的肌肉无力非常严重，但在生长期间可观察到肌肉发育。然而，尚未有该类型的临床病例报告。因此，我们报告了一名患有CMyD的女孩，其在四年期间肌肉力量有所增加。这名患有CMyD的女孩从9岁到12岁参与了本研究。肌肉力量的测量记录为使用握力计测得的握力最大得分。每年由同两名物理治疗师评估一次握力。与正常对照组相比，CMyD每年的握力明显较弱，但在某些特定生长区域肌肉力量发生了变化。CMyD中的肌肉无力很显著，但结果表明，儿童期CMyD的特定肌肉力量实际上有所增加。
