PDF(Pubmed)
Abstract：
BACKGROUND: Dystonia can present in primary and secondary forms, depending on co-occurring symptoms and syndromic associations. In contrast to primary dystonia, secondary forms of dystonia are often associated with lesions in the putamen or globus pallidus. Such disorders are commonly neurodegenerative or neurometabolic conditions which produce varied neurologic as well as systemic manifestations other than dystonia. Chemo-denervation with botulinum toxin has been successfully used for focal or segmental dystonia. However, studies evaluating the effect of BoNT therapy on patients with secondary dystonia are sparse, given the heterogeneity in etiology and presentation.
METHODS: We present a series of patients with secondary dystonia who were managed with botulinum toxin therapy. Patients included in this series had a confirmed neurometabolic cause of dystonia.
RESULTS: A total of 14 patients, with ages ranging from 17 to 36 years, with disorders including Wilson\'s disease, pantothenate kinase-associated neurodegeneration (PKAN), Niemann-Pick disease type C (NPC), glutaric aciduria type 1, Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and GM2 gangliosidosis (Sandhoff disease) are presented. Most patients experienced a mild to moderate improvement in treated dystonia with benefits ranging from 6 to 12 weeks, with the median length of the benefits lasting approximately eight weeks, without any significant adverse effects.
CONCLUSIONS: Although the secondary causes of dystonia are complex and diverse, our presented data and the available reports of the use of botulinum toxin support the conclusion that chemo-denervation plays an important role in symptom alleviation.
METHODS: We present a series of patients with secondary dystonia who were managed with botulinum toxin therapy. Patients included in this series had a confirmed neurometabolic cause of dystonia.
RESULTS: A total of 14 patients, with ages ranging from 17 to 36 years, with disorders including Wilson\'s disease, pantothenate kinase-associated neurodegeneration (PKAN), Niemann-Pick disease type C (NPC), glutaric aciduria type 1, Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and GM2 gangliosidosis (Sandhoff disease) are presented. Most patients experienced a mild to moderate improvement in treated dystonia with benefits ranging from 6 to 12 weeks, with the median length of the benefits lasting approximately eight weeks, without any significant adverse effects.
CONCLUSIONS: Although the secondary causes of dystonia are complex and diverse, our presented data and the available reports of the use of botulinum toxin support the conclusion that chemo-denervation plays an important role in symptom alleviation.
摘要：
背景：肌张力障碍可以主要和次要形式存在，取决于共同发生的症状和综合征关联。与原发性肌张力障碍相反，继发性肌张力障碍通常与壳核或苍白球的病变有关。此类病症通常是神经变性或神经代谢病症,其产生除了肌张力障碍以外的各种神经系统以及全身性表现。肉毒杆菌毒素的化学去神经支配已成功用于局灶性或节段性肌张力障碍。然而,评估BoNT治疗对继发性肌张力障碍患者的影响的研究很少，鉴于病因和表现的异质性。
方法：我们介绍了一系列继发性肌张力障碍患者，这些患者接受了肉毒杆菌毒素治疗。包括在该系列中的患者具有经证实的肌张力障碍的神经代谢原因。
结果：共有14名患者，年龄从17岁到36岁，患有包括威尔逊病在内的疾病，泛酸激酶相关神经变性（PKAN），尼曼-皮克病C型（NPC），戊二酸尿症1型，Sanfilippo综合征（粘多糖贮积症IIIb型），和GM2神经节苷脂病(Sandhoff病)。大多数患者在治疗的肌张力障碍方面经历了轻度至中度的改善，获益范围为6至12周。福利的中位数持续约八周，没有任何明显的不良影响。
结论：尽管肌张力障碍的次要原因复杂多样，我们提供的数据和现有的关于使用肉毒杆菌毒素的报道支持了化学去神经在症状缓解中起重要作用的结论.
方法：我们介绍了一系列继发性肌张力障碍患者，这些患者接受了肉毒杆菌毒素治疗。包括在该系列中的患者具有经证实的肌张力障碍的神经代谢原因。
结果：共有14名患者，年龄从17岁到36岁，患有包括威尔逊病在内的疾病，泛酸激酶相关神经变性（PKAN），尼曼-皮克病C型（NPC），戊二酸尿症1型，Sanfilippo综合征（粘多糖贮积症IIIb型），和GM2神经节苷脂病(Sandhoff病)。大多数患者在治疗的肌张力障碍方面经历了轻度至中度的改善，获益范围为6至12周。福利的中位数持续约八周，没有任何明显的不良影响。
结论：尽管肌张力障碍的次要原因复杂多样，我们提供的数据和现有的关于使用肉毒杆菌毒素的报道支持了化学去神经在症状缓解中起重要作用的结论.
