Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. It is an autosomal recessive disorder caused by the fukutin mutation (FKTN), characterized by muscle wasting and brain abnormalities. So far, serum creatine kinase (CK) is recognized as the only biomarker for FCMD. Recently, an ELISA assay to quantify the N-terminal fragment of titin in urine was developed. Urinary titin concentration is elevated in patients with Duchenne muscular dystrophy (DMD) compared to normal controls. Levels vary according to age with excellent sensitivity and specificity for detecting DMD, and they can be used as a diagnostic and disease progression marker. In this study, we measured the urinary titin concentration of 18 patients with FCMD. It was remarkably higher than normal controls and correlated with CK. Especially in homozygotes, the score for gross motor function measure, which is a quantitative motor scale for FCMD, was correlated with urinary titin concentration. Elevated urinary titin concentrations were thought to be reflective of a common pathophysiology with DMD. Urinary titin concentrations can assist with making the diagnosis of FCMD and to estimate the patient's motor function at that point.

福山先天性肌营养不良症 (FCMD) 是日本第二大流行的儿童期肌营养不良症。它是一种由 fukutin 突变 ( FKTN)引起的常染色体隐性遗传病)，以肌肉萎缩和大脑异常为特征。迄今为止，血清肌酸激酶（CK）被认为是 FCMD 的唯一生物标志物。最近，开发了一种用于量化尿液中肌联蛋白 N 末端片段的 ELISA 测定法。与正常对照相比，杜氏肌营养不良症 (DMD) 患者的尿肌联蛋白浓度升高。水平因年龄而异，对检测 DMD 具有极好的敏感性和特异性，它们可用作诊断和疾病进展标志物。在这项研究中，我们测量了 18 名 FCMD 患者的尿肌联蛋白浓度。它显着高于正常对照并与CK相关。特别是在纯合子中，粗大运动功能测量得分，这是 FCMD 的定量运动量表，与尿肌动蛋白浓度相关。尿肌联蛋白浓度升高被认为反映了 DMD 的常见病理生理学。尿肌联蛋白浓度可以帮助诊断 FCMD 并估计此时患者的运动功能。