家族性肌萎缩性舞蹈病伴发棘红细胞症(FACWA)是一种罕见的多系统疾病,其特点为全身性癫痫发作、颊舌运动障碍、面肌抽搐、构音障碍、舞蹈样运动、反射消失、肌萎缩和弓形足等症状和体征。作者报道一例46岁男性,36岁开始有进行性口面部运动障碍、构音障碍、咽下困难及躯干与肢体的舞蹈病。40岁出现全身性强直阵挛发作,EEG呈阵发性慢波,头颅CT正常。入院时有间断性口、面、颈部酷似吸吮样及做鬼脸动作,伴发间断性快速短暂闭目及偶发性屈颈运动,发出接吻及吸吮样响声,并有躯干及四肢的舞蹈样运动。牙齿脱落、流涎、语言呈鼻音且含糊不清,咀嚼困难,饮水返流。四肢远端肌萎缩,肌力弱。腱反射及跖反应缺失。余无异常。其51岁的哥哥同样受损,但 Familial Atrophy Chorea Acanthocytosis (FACWA) is a rare, multisystem disorder characterized by generalized seizures, bucco-lingual dyskinesia, facial spasms, dysarthria, dance-like movements, reflexes Disappear, muscle atrophy and arch foot and other symptoms and signs. The authors report a 46-year-old male who developed progressive facial and facial dyskinesia, dysarthria, dysphagia and torso and limb chorea at 36 years of age. 40-year-old generalized tonic clonic seizures, EEG was paroxysmal slow wave, head CT normal. On admission, there are intermittent mouth, face and neck resembling suck-like and grimacing movements, accompanied by intermittent rapid short-term closed eyes and occasional flexing, sending out kissing and suck-like sound, and torso and limb-like dance-like exercise . Teeth loss, salivation, the language was nasal and vague, chewing difficulties, drinking water reflux. Distal limb muscle atrophy, muscle weakness. Tendon reflexes and plantar responses are missing. I no exception. His 51-year-old brother was similarly damaged, however