Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome

• Published in: Internal Medicine 2024/10/01, Vol.63(19), pp.2683-2687
• Main Authors: Hamaguchi, Tsuyoshi, Nishino, Ichizo, Hirano, Yasuki, Uchida, Nobuaki, Fujita-Nakata, Michiyo, Nakanishi, Megumi, Sakai, Tomoyuki, Asahina, Masato
• Format: Article
• Language: English
• Subjects: Biopsy; Case Report; Creatine; Creatine kinase; Female; Humans; Immunoglobulins, Intravenous - therapeutic use; Immunotherapy; Methylprednisolone; Methylprednisolone - therapeutic use; Middle Aged; Monoclonal gammopathy; monoclonal gammopathy of undetermined significance; muscle biopsy; Myopathies, Nemaline - complications; Myopathies, Nemaline - diagnosis; Myopathy; Nemaline myopathy; Serological tests; Sjogren's syndrome; Sjogren's Syndrome - complications; Sjogren's Syndrome - diagnosis; Sjögren's syndrome; sporadic late-onset nemaline myopathy
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.3092-23

We report the case of a 46-year-old female patient who developed a subacute progression of axial and proximal muscle weakness. Laboratory findings revealed mildly elevated serum creatine kinase levels. No monoclonal gammopathy was detected. A muscle biopsy revealed that she had nemaline myopathy. Serological tests and a lip biopsy revealed Sjögren's syndrome (SjS). We diagnosed her as having sporadic late-onset nemaline myopathy without monoclonal gammopathy of undetermined significance associated with SjS. Her symptoms improved after methylprednisolone pulse therapy followed by intravenous immunoglobulin therapy. A good response to immunotherapy demonstrates the necessity of making a correct diagnosis, for which a muscle biopsy is required.