Madakshira Manoj Gopal, Singla Sonal, Gupta Kirti, Zahan Sayeeda, Paria Pradip, Sahu Jitendra Kumar
Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India.
Post Graduate Institute of Medical Education and Research, Department of Pathology. Chandigarh, India.
Autops Case Rep. 2020 Apr 23;10(2):e2020157. doi: 10.4322/acr.2020.157.
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，它包含一大类以脊髓下运动神经元缓慢进行性退变为特征的遗传性疾病。该突变见于位于5号染色体上的基因。根据发病年龄和严重程度，SMA有三种亚型。我们讨论了一例1型SMA（也称为韦尼克-霍夫曼病）的尸检结果，以突出脊髓和骨骼肌的主要变化以及肝脏的相关变化和终末期呼吸并发症。
