一种罕见的遗传病,往往被误诊,比人们所相信的更为普遍,促使人们呼吁进行更广泛的筛选。 A rare genetic disorder, often misdiagnosed, is more common than believed, prompting calls for wider screening.

一项新的研究表明,一种罕见的遗传状况,以前在许多病人中被误诊过,可能比想象的更为常见,促使专家建议更广泛的遗传筛选。 A new study reveals that a rare genetic condition, previously misdiagnosed in many patients, may be more common than thought, prompting experts to recommend broader genetic screening. 国家卫生研究所的研究人员查明了不同人口群体中200多人的病症,症状往往被误认为是更常见的神经病。 Researchers at the National Institutes of Health identified the disorder in over 200 individuals across diverse populations, with symptoms often mistaken for more common neurological conditions. 根据《新英格兰医学杂志》公布的调查结果,通过有针对性的测试进行早期检测可以改善结果。 Early detection through targeted testing could improve outcomes, according to the findings published in the New England Journal of Medicine.