Pasqualin Lívia M A, Reed Umbertina C, Costa Thais V M M, Quedas Elisângela, Albuquerque Marco A V, Resende Maria B D, Rutkowski Anne, Chadi Gerson, Zanoteli Edmar
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Department of Endocrinology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Pediatr Neurol. 2014 Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010. Epub 2013 Nov 21.
Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype.
Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene.
All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study.
Although lamin A/C--related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.
先天性肌营养不良是一组临床和遗传异质性的肌病。与核纤层蛋白A/C相关的先天性肌营养不良较为罕见，其特征为早发性肌张力减退伴轴性肌无力，通常在生命的第一年内出现运动发育迟缓，并伴有垂头表型。
在此，我们报告了4例患有垂头综合征且LMNA基因突变的巴西非亲缘患者的临床和组织学特征。
所有患者均有先前报道的突变（p.E358K、p.R249W和p.N39S），表现为明显的颈部肌肉无力、血清肌酸激酶升高、肌肉活检显示营养不良模式以及需要通气支持的呼吸功能不全。3例患者出现心律失常，1例在神经传导研究中表现为神经病变模式。
尽管与核纤层蛋白A/C相关的先天性肌营养不良是一种临床特征明显且可识别的表型，但基因型/表型相关性、预测呼吸和心脏受累发作的能力以及营养支持需求仍然难以确定。
