Soares Bruno Alvarenga, Freitas Camila Fernanda de, Cardoso Juliana, Baptista Cyntia Rogean de Jesus Alves de, Marques Wilson, Mattiello-Sverzut Ana Claudia
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
Arq Neuropsiquiatr. 2025 Aug;83(8):1-8. doi: 10.1055/s-0045-1811174. Epub 2025 Aug 20.
Charcot-Marie-Tooth disease (CMT) is a progressive neurological disorder that typically manifests in early childhood. The natural progression of CMT in Brazilian pediatric and adolescent populations remains unknown.To evaluate the natural disease progression in Brazilian children and adolescents with CMT using the Charcot-Marie-Tooth Pediatric Scale (CMTPedS).A longitudinal observational study was conducted to assess disease progression over a 2-year period through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis. Height, weight, body mass index (BMI), fat-free mass, and functionality (assessed via the CMTPedS) were evaluated in each of the three sessions.We included 30 participants of both sexes with a mean age of 11.1 ± 3.2 years. Significant increases in height, weight, and BMI were observed, alongside a decline in the percentage of lean body mass across evaluations. The total score on the CMTPedS increased by 4.5 points throughout 2 years, indicating disease progression, with notable deterioration in functional dexterity, pinprick and vibration sensations, and gait. Significant progression was evident within 1 year, with an average annual deterioration of 2.25 points. The subgroup with CMT type 1A (CMT1A) presented an increase of 4 points in the total score, corresponding to an average annual progression of 2 points. Unlike the overall CMT group, the CMT1 subgroup did not exhibit a decline in the pinprick sensation score.Children and adolescents with CMT exhibit significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The CMTPedS is a reliable tool to monitor CMT progression in this population.
夏科-马里-图斯病（CMT）是一种进行性神经障碍，通常在儿童早期出现。CMT在巴西儿童和青少年人群中的自然病程仍不明确。使用夏科-马里-图斯儿童量表（CMTPedS）评估巴西儿童和青少年CMT的自然疾病进展。进行了一项纵向观察性研究，通过对年龄在5至18岁、确诊为CMT的儿童和青少年进行3次评估（间隔1年），来评估2年内的疾病进展。在每一次评估中，对身高、体重、体重指数（BMI）、去脂体重和功能（通过CMTPedS评估）进行了评估。我们纳入了30名男女参与者，平均年龄为11.1±3.2岁。观察到身高、体重和BMI显著增加，同时在各次评估中瘦体重百分比下降。CMTPedS的总分在2年内增加了4.5分，表明疾病进展，在功能灵活性、针刺和振动感觉以及步态方面有明显恶化。在1年内疾病进展明显，平均每年恶化2.25分。1A型CMT（CMT1A）亚组的总分增加了4分，相当于平均每年进展2分。与整个CMT组不同，CMT1亚组的针刺感觉评分没有下降。患有CMT的儿童和青少年在2年内疾病进展显著，早在1年时就观察到可测量的恶化。CMTPedS是监测该人群中CMT进展的可靠工具。
