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Abstract：
BACKGROUND: Since its localization to the NKX2-1 gene in 2002, the phenotype of the disorder historically called \"benign hereditary chorea\" has been expanding beyond chorea.
METHODS: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.
RESULTS: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies.
CONCLUSIONS: The phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1-related disorder.
METHODS: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.
RESULTS: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies.
CONCLUSIONS: The phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1-related disorder.
摘要：
背景：自2002年定位到NKX2-1基因以来，历史上被称为“良性遗传性舞蹈症”的疾病的表型一直在扩展到舞蹈症之外。
方法：在对过去3年在我们诊所评估的连续患者进行详细评估后，对运动障碍的现象学和与NKX2-1突变相关的其他症状进行了表征。
结果：我们研究了5名患者（3名女性），年龄在2到31岁之间,在NKX2-1中证实有致病性变异。所有患者都表现为舞蹈病，电机总延迟，和步态障碍。其他症状包括新生儿呼吸衰竭（n=4），认知缺陷(n=3)，甲状腺功能减退（n=4），关节松弛(n=2)，肌阵鸣（n=1），低张力（n=3），和癫痫发作（n=1）。舞蹈症通常被证明对医学治疗无效。
结论：与NKX2-1致病变异相关的表型通常包括致残和药物难治性神经系统和非神经系统异常。因此，我们建议放弃“良性遗传性舞蹈病”一词，而将其遗传命名为NKX2-1相关疾病。
方法：在对过去3年在我们诊所评估的连续患者进行详细评估后，对运动障碍的现象学和与NKX2-1突变相关的其他症状进行了表征。
结果：我们研究了5名患者（3名女性），年龄在2到31岁之间,在NKX2-1中证实有致病性变异。所有患者都表现为舞蹈病，电机总延迟，和步态障碍。其他症状包括新生儿呼吸衰竭（n=4），认知缺陷(n=3)，甲状腺功能减退（n=4），关节松弛(n=2)，肌阵鸣（n=1），低张力（n=3），和癫痫发作（n=1）。舞蹈症通常被证明对医学治疗无效。
结论：与NKX2-1致病变异相关的表型通常包括致残和药物难治性神经系统和非神经系统异常。因此，我们建议放弃“良性遗传性舞蹈病”一词，而将其遗传命名为NKX2-1相关疾病。
