脊髓性肌萎缩伴1型呼吸窘迫(SMARD1)是一种罕见的常染色体隐性遗传性神经肌肉疾病,其特征是在生命的第一年进行性运动和呼吸下降。最近报道了早发和迟发病例,虽然不符合既定的诊断标准,这些病例已被基因分型。因此,我们进行了一项国家多中心观察性回顾性研究,以根据SMARD1儿童的表型确定其预后。我们记录了所有已知的法国儿科病例,这些病例在免疫球蛋白μ结合蛋白2基因上发现了突变,并且存在呼吸道症状。30个中心提供了22个观察结果。在首次出现呼吸道症状后1.5个月(p=0.02)诊断为diaphragm肌麻痹,张力减退先于反射障碍4个月(p=0.02)。在3个月大之前导致专家咨询的症状的早期发作与显著较差的预后相关(p<0.01)。在还活着的6名患者中,都做了气管切开.只有一例在没有人工通气的情况下存活超过2年。其余患者死亡的中位年龄为7个月。我们的结果可能有助于儿科医生向父母提供医疗信息,并改善建立生命支持的决策过程。
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective
study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms. Thirty centers provided 22 observations. A diaphragmatic palsy was diagnosed 1.5 months (p = 0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (p = 0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (p < 0.01). Among the 6 patients who were still alive, all were tracheostomized. Only one case survived beyond 2 years without artificial ventilation. The remaining patients died at a median age of 7 months. Our results may help pediatricians to provide medical information to parents and improve the decision-making process of setting up life support.