Department of Pediatric Medicine, King Fahad Armed Forces Hospital, Khamis Mushait, Saudi Arabia.
J Coll Physicians Surg Pak. 2021 Dec;31(12):1494-1496. doi: 10.29271/jcpsp.2021.12.1494.
Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an exceptionally rare type of SMA. It results from disintegration of alpha motor neurons of the spinal cord. Clinically, children affected with this disorder present between the age of six weeks to six months with respiratory distress and hypotonia. Most of the children die before the age of 13 months. Here, we report a new variant in a female infant with SMARD1 having a novel IGHMBP2 gene mutation. Despite supportive treatment, she died at the age of 5 months in hospital. To the best of our knowledge, the variant has not been described in the literature so far. Key Words: Spinal muscular atrophy with respiratory distress type-1 (SMARD1), Hypotonia, respiratory distress, infants.
脊髓性肌萎缩伴呼吸窘迫症 1 型（SMARD1）是一种极其罕见的脊髓性肌萎缩症类型。它是由脊髓α运动神经元解体引起的。临床上，患有这种疾病的儿童在 6 周到 6 个月之间出现呼吸窘迫和低张力。大多数儿童在 13 个月前死亡。在这里，我们报告了一例患有 SMARD1 的女性婴儿的新变异，该婴儿存在 IGHMBP2 基因突变。尽管进行了支持性治疗，她还是在 5 个月大时在医院死亡。据我们所知，该变异迄今尚未在文献中描述。
脊髓性肌萎缩伴呼吸窘迫症 1 型（SMARD1）、低张力、呼吸窘迫、婴儿。
