Yoo Yeun Jie, Shin Bo Kyung, Yoon Mi-Jeong, Lim Seong Hoon, Kim Joon-Sung, Hong Bo Young
Department of Rehabilitation Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, 93, Jungbu-daero, Paldal-gu, Suwon 16247, Gyeonggi-do, Korea.
Children (Basel). 2022 Aug 11;9(8):1204. doi: 10.3390/children9081204.
Nemaline myopathy (NM) is a rare congenital myopathy, a group of disorders that are clinically and genetically heterogeneous. Infants and children with NM often suffer from recurrent pulmonary infections and swallowing difficulty, leading to malnutrition. However, knowledge about the clinical course and prognosis of dysphagia is limited. In this study, we reported the clinical course of two NM patients suffering from dysphagia. Although tube feeding was required for several months after birth, it was eventually possible to obtain sufficient nutrition with an oral diet. Therefore, dysphagia rehabilitation therapy through a series of evaluations should be considered even in children with severe oral motor dysfunction. Through these cases, physicians should be convinced that the symptoms of dysphagia in children with NM can be improved and be able to encourage their parents by explaining this progress. They have the potential to show improvements in swallowing function and will finally be able to take food slowly but fully orally.
杆状体肌病（NM）是一种罕见的先天性肌病，是一组在临床和基因上具有异质性的疾病。患有杆状体肌病的婴幼儿经常反复发生肺部感染和吞咽困难，导致营养不良。然而，关于吞咽困难的临床病程和预后的知识有限。在本研究中，我们报告了两名患有吞咽困难的杆状体肌病患者的临床病程。虽然出生后几个月需要管饲，但最终通过口服饮食获得足够营养是可能的。因此，即使对于有严重口腔运动功能障碍的儿童，也应考虑通过一系列评估进行吞咽困难康复治疗。通过这些病例，医生应确信杆状体肌病患儿的吞咽困难症状可以改善，并能够通过解释这一进展来鼓励他们的父母。他们有改善吞咽功能的潜力，最终将能够缓慢但完全通过口服进食。
