PDF(Pubmed)
Abstract：
Spinal muscular atrophy (SMA) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. The incidence is exceptionally rare, commonly manifesting as slowly progressive muscular weakness and atrophy of lower limbs. As per our existing knowledge, this is the first case of SMA associated with hyperlordosis in a patient. Hyperlordosis is a deformity in spinal curvature characterized by an excessive forward spinal curve in the region of the lower back, forming the characteristic C-shape curvature in the lumbar region, just above the buttocks. Parents brought an 11-year-old male child with complaints of inability to get up from a sitting position along with difficulty in walking for the past six months. Upon physical examination, deep tendon reflexes were absent; there was severe hyperlordosis, proximal limb weakness, and notable hypotonia. In our study, we aim to understand the clinical presentation, impact, and association of hyperlordosis in a child diagnosed with SMA. This case report describes the complaints and successful diagnosis of a patient of survivor motor neuron (SMN) gene-related SMA along with severe hyperlordosis backed by evidences of electrophysiology and neuropathology. However, a complete cure and normal lifestyle are not possible due to the lack of affordable and easily accessible therapies.
摘要：
脊髓性肌萎缩症（SMA）表示一组遗传性常染色体隐性遗传疾病，where,具体来说,大脑和脊髓前角细胞运动神经元受到影响，导致严重的肌张力减退和肌肉无力。发病率异常罕见，通常表现为缓慢进行性肌肉无力和下肢萎缩。根据我们现有的知识，这是第一例SMA与过度前凸相关的病例.脊柱前凸畸形是一种脊柱弯曲畸形，其特征是下背部区域的脊柱前曲过度，在腰部形成特征性的C形曲率，就在臀部上方。父母带了一个11岁的男孩，抱怨过去六个月无法从坐姿站起来，行走困难。在体检时,深肌腱反射缺失;有严重的过度前凸,近端肢体无力，和明显的低张力。在我们的研究中,我们的目标是了解临床表现，影响，以及诊断为SMA的儿童的过度前凸的关联。此病例报告描述了幸存者运动神经元（SMN）基因相关SMA患者的投诉和成功诊断，以及在电生理学和神经病理学证据的支持下的严重高前凸。然而,完全治愈和正常的生活方式是不可能的，由于缺乏负担得起和容易获得的治疗。
