TY - T1的先天性肌病JF -神经学乔-神经病学SP - 28 LP - 35 首页- 10.1212 / WNL。000000000000188金宝慱官网下载1110六世- 84 - 1 AU -艾琳科伦坡盟Mariacristina Scoto AU - Adnan y Manzur AU -斯蒂芬妮·a·罗伯AU -洛伦佐·美极盟Vasantha高达AU -托马斯Cullup盟-迈克尔·邱盟拉胡尔Phadke AU -卡洛琳Sewry盟亨氏Jungbluth AU -弗朗西斯科Muntoni Y1 - 2015/01/06 UR - //www.ez-admanager.com/content/84/1/28.abstract N2 -目的:评估先天性肌肉疾病的自然史(CMs)由于不同的基因型。首页方法:回顾性横断面研究基于case-note回顾125例受厘米,跟着一个小儿神经肌肉中心,在1984年和2012年之间。结果:遗传特性实现99年125例(79.2%),与RYR1最常涉及(44/125)。新生儿或婴儿发病中观察到76%。出生时,30.4%的人需要呼吸支持,25.2%胃喂食。百分之十二死亡,主要是在第一年,与ACTA1突变有关,MTM1或KLHL40。所有RYR1-mutated例存活,不需要长期呼吸机支持包括那些患有严重新生儿发病;然而,隐性的情况下更有可能需要插入胃造口术(p = 0.0028)相比,占主导地位的情况。独立的移动实现74.1%的患者;迟到了步行者的62.9%。在走动的病人中,9%最终成为wheelchair-dependent。 Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years).Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling.ACTA1=skeletal muscle α-actin; AD=autosomal dominant; AR=autosomal recessive; CM=congenital myopathy; CNM=centronuclear myopathy; DNIV=daily noninvasive ventilation; DNM2=dynamin 2; FTD=fiber type disproportion; G/J=gastrostomy/jejunostomy; KLHL40=kelch-like family member 40; MTM1=myotubularin; NEB=nebulin; NGT=nasogastric tube; NM=nemaline myopathy; NNIV=nocturnal noninvasive ventilation; NSMC=nonspecific myopathic changes; RYR1=ryanodine receptor type 1; SEPN1=selenoprotein N; TPM2=β-tropomyosin; TPM3=tropomyosin 3 ER -