阵发性不对称性肌张力障碍性手臂姿势——一种较少被认识但具有特征性的ATP1A3相关疾病表现。
Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.
作者信息
Balint Bettina, Stephen Christopher D, Udani Vrajesh, Sankhla Charulata Savant, Barad Narendrakumar H, Lang Anthony E, Bhatia Kailash P
机构信息
Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom.
Department of Neurology University Hospital Heidelberg Heidelberg Germany.
出版信息
Mov Disord Clin Pract. 2019 Apr 4;6(4):312-315. doi: 10.1002/mdc3.12747. eCollection 2019 Apr.
BACKGROUND
mutations cause a wide clinical spectrum, and are one of the "commoner rare diseases".
METHODS
Case series of four patients with mutations.
RESULTS
The patients displayed characteristic episodes of dystonic arm posturing, involving a dystonic, flexed arm held in front of the body or close to the body, but with the hand raised upwards. Other attacks manifested with arm extension, either beside the body or reaching upwards. Dystonic posturing occurred paroxysmally, with no neurological signs between attacks, or combined with other signs like chorea, ataxia, and hypotonia.
CONCLUSIONS
While previous diagnostic criteria have not included paroxysmal or episodic dystonia, recent expert consensus has proposed to include alternating or paroxysmal dystonia as major feature calling for genetic testing. Attacks of marked arm flexion posturing, either paroxysmal or as episodic exacerbation of mild pre-existent dystonia, are a characteristic clue to -related disease.
背景
突变导致广泛的临床谱，是“较常见的罕见病”之一。
方法
4例有突变患者的病例系列。
结果
患者表现出特征性的肌张力障碍性手臂姿势发作，包括一种肌张力障碍性、屈曲的手臂置于身体前方或靠近身体，但手向上抬起。其他发作表现为手臂伸展，在身体一侧或向上伸展。肌张力障碍性姿势呈发作性，发作间期无神经体征，或伴有舞蹈症、共济失调和肌张力减退等其他体征。
结论
虽然以前的诊断标准未包括阵发性或发作性肌张力障碍，但最近的专家共识提议将交替性或阵发性肌张力障碍作为主要特征纳入，这需要进行基因检测。明显的手臂屈曲姿势发作，无论是阵发性的还是作为轻度既往存在的肌张力障碍的发作性加重，都是与相关疾病的特征性线索。
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