Kinoshita H, Sugai K, Goto Y, Nonaka I
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP) Tokyo, Japan.
Brain Dev. 1995 May-Jun;17(3):206-9. doi: 10.1016/0387-7604(95)00027-9.
A 14-year-old Chinese boy, who first became aware of muscle weakness in the lower limbs at 6 years of age, had progressive distal muscle weakness and atrophy, predominantly in the lower leg muscles. He exhibited reduced ankle dorsiflexion and tended to walk on his toes, showing preferential anterior tibial muscle involvement. Laboratory examination revealed a moderately elevated serum creatine kinase level of 905 IU/l. Computed tomographic scanning of muscle disclosed low density areas in the lower legs. A muscle biopsy specimen from the biceps brachii revealed mild dystrophic changes. We made a diagnosis of distal muscular dystrophy based on these findings, but could not classify it as one of the previously reported forms. The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dystrophy, or a variant form of the Miyoshi type or tibial muscular dystrophy.
一名14岁的中国男孩，6岁时首次意识到下肢肌肉无力，出现进行性远端肌肉无力和萎缩，主要累及小腿肌肉。他表现为踝关节背屈减弱，倾向于踮脚尖行走，提示胫前肌受累为主。实验室检查显示血清肌酸激酶水平中度升高，为905 IU/l。肌肉计算机断层扫描显示小腿有低密度区。肱二头肌肌肉活检标本显示轻度营养不良性改变。基于这些发现，我们诊断为远端型肌营养不良，但无法将其归类为先前报道的任何一种类型。尽管该疾病的发病远远早于先前描述的远端型肌营养不良，但症状与胫骨型肌营养不良相似。尚不清楚该患者是否患有新型远端型肌营养不良，还是三泽型或胫骨型肌营养不良的变异型。
