弗里德赖希共济失调（FRDA）是欧洲常见的常染色体隐性遗传疾病，但在中国较为罕见，目前国内尚无经基因诊断的FRDA病例报道。该文报道1例运动发育迟缓且步态不稳的男性患者，超声心动图检测到左心室肥厚，心脏磁共振成像显示左心室壁心肌多灶性钆对比剂延迟强化。基因检测显示FXN基因复合杂合突变：c.482+2T>A突变和第一内含子GAA三核苷酸序列异常扩增（8次和>66次重复），其中GAA拷贝数大于66次达到FRDA的致病性扩增阈值。.
Friedreich ataxia (FRDA) is a common autosomal recessive disease in Europe, but it is rarer in China, and no genetically diagnosed FRDA cases have been reported in China. This article reported a male patient with delayed motor development and unstable gait, left ventricular hypertrophy was detected by echocardiography, and cardiac magnetic resonance imaging showed delayed enhancement of myocardial multifocal gadolinium contrast agent in the left ventricular wall. Genetic testing revealed complex heterozygous mutations in the FXN gene: c.482+2 T>A mutation and abnormal amplification of the first intron GAA trinucleotide sequence (8 and >66 replicates), where the GAA copy number was greater than 66 to reach the pathogenic amplification threshold of the FRDA.
