医学
儿科
共济失调
背景(考古学)
罕见病
肌阵挛
疾病
介绍(产科)
视索克隆
外科
病理
精神科
细胞培养
生物
古生物学
遗传学
神经母细胞瘤
作者
Sandra Jimenez Giraldo,Michaelis Michael,Leanne Kerr,Christopher Cortina,Bo Zhang,Mark Gorman
标识
DOI:10.1016/j.pediatrneurol.2024.06.007
摘要
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neuroimmune disease with peak onset at 18 months, associated with neural crest tumors in 50% of patients. In part due to its rarity, misdiagnosis at onset is common, can delay treatment, and may contribute to adverse outcomes. Patient-reported registries may overcome some of these challenges in rare disease research. In this context, the OMSLife Foundation collaborated with the National Organization of Rare Diseases to create a patient-reported registry in OMAS.
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