Kizilkilic Esra Kochan, Erener Nursena, Meric Mustafa, Adatepe Nurten Uzun, Gunduz Aysegul
Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey.
University of Health Sciences, Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Neurology, Istanbul, Turkey.
Tremor Other Hyperkinet Mov (N Y). 2024 Dec 4;14:59. doi: 10.5334/tohm.952. eCollection 2024.
Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.
Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.
We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center. We included patients reporting symptom onset after 18 years. We then compared the clinical factors between groups with and without spreading.
Among 434 patients (396 focal, 29 segmental, and nine generalized onset dystonia. mean follow-up of 8.6 ± 7.8 years), 48 (11.1%) experienced spread of dystonia, with 37 progressing from focal to segmental, two from focal to generalized, two from segmental to generalized, and seven from focal to segmental to generalized dystonia. Blepharospasm was the most common focal dystonia noted to spread, followed by oromandibular dystonia, cervical dystonia, laryngeal dystonia, and upper extremity dystonia, in decreasing order. A spreading pattern was observed in approximately one in 10 dystonia patients, and the spreading was more frequent in the segmental dystonia group. While there was no difference between the spreading groups regarding sensory tricks, tremor, and gender, family history was more common in the non-spreading group (p = 0.023). Older age at onset was independently associated with increased odds of spreading (hazards ratio: 1.054, p < 0.001, B = 0.053).
Although risk factors for spread are variable, the underlying mechanisms are not fully known. Genetic factors may be possibly related to the spread, and future studies are needed on this subject.
成人起病的肌张力障碍也可扩散至身体其他部位，尽管不如儿童起病的肌张力障碍常见。
我们的研究旨在探讨决定所有成人起病型肌张力障碍扩散模式的临床因素。
我们回顾性分析了在我们中心纵向随访的孤立性肌张力障碍患者的病历。我们纳入了报告症状起始于18岁之后的患者。然后我们比较了有扩散和无扩散组之间的临床因素。
在434例患者中（396例局灶性、29例节段性和9例全身性起病的肌张力障碍，平均随访8.6±7.8年），48例（11.1%）出现肌张力障碍扩散，其中37例从局灶性进展为节段性，2例从局灶性进展为全身性，2例从节段性进展为全身性，7例从局灶性进展为节段性再进展为全身性肌张力障碍。睑痉挛是最常见的出现扩散的局灶性肌张力障碍，其次依次为口下颌肌张力障碍、颈部肌张力障碍、喉肌张力障碍和上肢肌张力障碍。约十分之一的肌张力障碍患者出现扩散模式，且在节段性肌张力障碍组中扩散更频繁。虽然在扩散组之间关于感觉技巧、震颤和性别方面没有差异，但家族史在无扩散组中更常见（p = 0.023）。发病时年龄较大与扩散几率增加独立相关（风险比：1.054，p < 0.001，B = 0.053）。
虽然扩散的危险因素各不相同，但其潜在机制尚不完全清楚。遗传因素可能与扩散有关，对此主题未来还需要进行研究。
