Ceraolo Graziana, Spoto Giulia, Consoli Carla, Modafferi Elena, Di Rosa Gabriella, Nicotera Antonio Gennaro
Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, 98125 Messina, Italy.
Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences & Morpho-Functional Imaging, University of Messina, 98125 Messina, Italy.
Life (Basel). 2025 Jun 20;15(7):992. doi: 10.3390/life15070992.
Genetic dystonias are a heterogeneous group of movement disorders characterized by involuntary, sustained muscle contractions that cause repetitive movements and abnormal postures. Often beginning in childhood, they can significantly affect quality of life. Although individually rare, genetic causes are collectively relevant in pediatric dystonias, with over 250 associated genes. Among these, , , and are the most frequently reported in pediatric forms. Diagnosis is challenging due to the wide clinical and genetic variability. Recent advances in genetic testing, including whole-exome and whole-genome sequencing, have improved the early identification of causative variants. Functional data on selected mutations are helping to refine genotype-phenotype correlations. Management typically requires a multidisciplinary approach. Symptomatic treatments include anticholinergics, benzodiazepines, and botulinum toxin, while deep brain stimulation can be effective in refractory cases, especially in patients with variants. Disease-modifying therapies are also emerging, such as gene therapy for AADC deficiency, highlighting the potential of precision medicine. This review provides an updated overview of pediatric genetic dystonias, with a focus on differential diagnosis and treatment strategies. Early and accurate diagnosis, together with personalized care, is key to improving outcomes in affected children.
遗传性肌张力障碍是一组异质性的运动障碍，其特征为不自主、持续性肌肉收缩，导致重复性运动和异常姿势。通常始于儿童期，可显著影响生活质量。虽然单个病因罕见，但遗传因素在儿童肌张力障碍中总体上具有相关性，有超过250个相关基因。其中， 、 和 在儿童型中报道最为频繁。由于临床和遗传变异性广泛，诊断具有挑战性。包括全外显子组测序和全基因组测序在内的基因检测的最新进展，改善了致病变异的早期识别。所选突变的功能数据有助于完善基因型-表型相关性。治疗通常需要多学科方法。对症治疗包括抗胆碱能药物、苯二氮䓬类药物和肉毒杆菌毒素，而深部脑刺激对难治性病例可能有效，尤其是携带 变异的患者。疾病修饰疗法也在不断涌现，如针对芳香族氨基酸脱羧酶缺乏症的基因治疗，凸显了精准医学的潜力。本综述提供了儿童遗传性肌张力障碍的最新概述，重点关注鉴别诊断和治疗策略。早期准确诊断以及个性化护理是改善患病儿童预后的关键。
