Nemaline myopathy revealed by respiratory failure in adults

G. Bourdin , R. Lazor , V. Cottin , F. Bouhour , N. Streichenberger , C. Vial , T. Petitjean , J.F. Cordier
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Abstract

Most forms of myopathy may involve the respiratory muscles and progress to respiratory failure. However, the diagnosis of myopathy is seldom considered in an adult patient with no history of muscle disease and presenting with respiratory failure. Nemaline myopathy (NM) is a rare disorder characterized by symmetrical diffuse muscle weakness and rod-like nemaline bodies in muscle fibers. Respiratory muscle involvement is a major determinant of mortality in congenital NM, but is rare in late onset NM.

Here, we report that acute or chronic respiratory failure may be caused by NM in subjects with no known history of muscle disease. Adult-onset NM was diagnosed in a 67-year-old woman with chronic respiratory insufficiency. Late onset childhood NM was revealed by respiratory failure in twin sisters aged 31. The diagnosis was established by muscle biopsy and electron microscopy (and mutations in the nebulin gene in the two sisters). Long-term clinical improvement was obtained with non-invasive ventilation (NIV) in the three patients.

In conclusion, respiratory failure in an adult patient with no known history may correspond to NM with diaphragm involvement. Long-term outcome may be favorable with NIV.

成人呼吸衰竭所表现的线状肌病
大多数形式的肌病可累及呼吸肌并发展为呼吸衰竭。然而,在没有肌肉疾病史并表现为呼吸衰竭的成人患者中,很少考虑肌病的诊断。线状肌病(NM)是一种罕见的疾病,其特征是对称性弥漫性肌肉无力和肌肉纤维中的杆状线状体。呼吸肌肉受累是先天性NM死亡率的主要决定因素,但在晚发性NM中很少见。在这里,我们报告了急性或慢性呼吸衰竭可能由NM引起的受试者没有已知的肌肉疾病史。成人发病NM被诊断为67岁女性慢性呼吸功能不全。在31岁的双胞胎姐妹中发现了晚发性儿童NM。诊断是通过肌肉活检和电子显微镜(以及两姐妹的星云基因突变)确定的。3例患者采用无创通气(NIV)获得长期临床改善。总之,无已知病史的成人患者的呼吸衰竭可能对应于横膈膜累及的NM。长期结果可能有利于NIV。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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