Choi Ji-Hyun, Lee Jee-Young, Kim Han-Joon, Jeon Beomseok
Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Department of Neurology, Seoul Metropolitan Government–Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea
J Mov Disord. 2018 Sep;11(3):145-148. doi: 10.14802/jmd.18028. Epub 2018 Sep 30.
The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.
目前的文献中有5篇关于伴有帕金森症的强直性肌营养不良（DM）的报道：4篇为2型DM报道，1篇为临床疑似1型DM报道。迄今为止，尚无基因确诊的1型DM合并帕金森症病例。在此，我们报告首例基因确诊的1型DM合并帕金森症病例，该病例在出现肌肉症状之前就已发病，影像学检查显示双侧壳核存在突触前多巴胺能缺陷。一名54岁女性患者出现运动迟缓、轴向及双侧肢体僵硬、弯腰姿势和表情减少，左旋多巴治疗无效。56岁时，她出现颈部屈曲无力。检查发现双侧面部无力、叩击性和握力性肌强直，肌电图证实有肌强直放电。1型DM的基因研究显示存在DMPK突变。58岁时，出现步态冻结、姿势不稳和频繁跌倒，增加左旋多巴剂量无效。59岁时，患者死于窒息。
