PDF(Pubmed)
Abstract：
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD.
Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review.
Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = fetal to 31.8 years). A total of 24 different TANGO2 alleles were observed. Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years. A total of 46/71 (65%) patients suffered metabolic crises, and of those, 30 (65%) developed cardiac crises. Metabolic crises were significantly decreased after the initiation of B-complex or multivitamin supplementation.
We provide the most comprehensive review of natural history of TDD and important observational data suggesting that B-complex or multivitamins may prevent metabolic crises.
Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review.
Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = fetal to 31.8 years). A total of 24 different TANGO2 alleles were observed. Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years. A total of 46/71 (65%) patients suffered metabolic crises, and of those, 30 (65%) developed cardiac crises. Metabolic crises were significantly decreased after the initiation of B-complex or multivitamin supplementation.
We provide the most comprehensive review of natural history of TDD and important observational data suggesting that B-complex or multivitamins may prevent metabolic crises.
摘要：
目标：TANGO2缺乏症（TDD），2016年首次报道的常染色体隐性遗传病，以神经发育迟缓为特征，癫痫发作,间歇性共济失调,甲状腺功能减退和危及生命的代谢和心脏危象。这项研究的目的是定义TDD的自然史。
方法：数据来自2019年2月至2022年5月之间正在进行的TDD患者自然史研究。数据是通过基于电话的父母访谈和病历审查获得的。
结果：数据来自17个不同国家的57个无关家庭的73名患者（56%为男性）。数据收集时参与者的平均年龄为9.0岁(IQR5.3-15.9岁，胎儿范围-31岁)。总共观察到24个不同的TANGO2等位基因。患者在婴儿期早期表现出正常发育，此后发育里程碑逐渐延迟。包括共济失调在内的症状,肌张力障碍和言语困难通常在1-3岁之间开始。共有48例（66%）患者出现代谢危象，其中，29/48（73%）发生心脏危象。B复合维生素或多种维生素开始后，代谢危机显着减少。
结论：我们对TDD的自然史进行了最全面的综述，并提供了重要的观察数据，表明复合维生素B或多种维生素可以预防代谢危机。
方法：数据来自2019年2月至2022年5月之间正在进行的TDD患者自然史研究。数据是通过基于电话的父母访谈和病历审查获得的。
结果：数据来自17个不同国家的57个无关家庭的73名患者（56%为男性）。数据收集时参与者的平均年龄为9.0岁(IQR5.3-15.9岁，胎儿范围-31岁)。总共观察到24个不同的TANGO2等位基因。患者在婴儿期早期表现出正常发育，此后发育里程碑逐渐延迟。包括共济失调在内的症状,肌张力障碍和言语困难通常在1-3岁之间开始。共有48例（66%）患者出现代谢危象，其中，29/48（73%）发生心脏危象。B复合维生素或多种维生素开始后，代谢危机显着减少。
结论：我们对TDD的自然史进行了最全面的综述，并提供了重要的观察数据，表明复合维生素B或多种维生素可以预防代谢危机。
