Chronic Myopathy Associated with Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

Kensuke Ikeda, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Masahiro Sonoo, Shigeaki Suzuki, Yoshiyuki Kondo, Harumasa Nakamura, Kana Mitsuhashi, Meiko Hashimoto Maeda, Jun Shimizu, Yukiko K. Hayashi, Ichizo Nishino, Yasushi Oya, Miho Murata

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Objectives: To report cases of chronic autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (anti-SRP myopathy) initially misdiagnosed as muscular dystrophy, in particular, facioscapulohumeral muscular dystrophy (FSHD). Methods: Medical records of patients with anti-SRP myopathy in our institution were retrospectively reviewed. Results: All 6 patients were initially diagnosed with muscular dystrophy because of the long-term clinical course and lack of inflammation on biopsy; 5 were diagnosed with FSHD based on a winged scapula. However, the following features suggested an alternative diagnosis, leading to anti-SRP antibody measurement: (1) lack of family history, (2) lack of facial involvement and asymmetry, (3) prominent dysphagia, and (4) profuse spontaneous activities on needle electromyography. All patients showed improvement with immunomodulating therapy. Conclusions: Anti-SRP antibody measurement should be considered in patients diagnosed with FSHD if they present with diagnostic hallmarks of anti-SRP myopathy listed above, to avoid oversight of this potentially treatable disorder.

Original languageEnglish
Pages (from-to)197-206
Number of pages10
JournalJournal of Clinical Neuromuscular Disease
Volume17
Issue number4
DOIs
Publication statusPublished - 2016 Jun 1

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Facioscapulohumeral Muscular Dystrophy
Signal Recognition Particle
Muscular Diseases
Diagnostic Errors
Anti-Idiotypic Antibodies
Antibodies
Muscular Dystrophies
Facial Asymmetry
Scapula
Electromyography
Deglutition Disorders
Needles
Medical Records
Inflammation
Biopsy

Keywords

  • anti-signal recognition particle antibody
  • dysphagia
  • facioscapulohumeral muscular dystrophy
  • winged scapulae

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Chronic Myopathy Associated with Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. / Ikeda, Kensuke; Mori-Yoshimura, Madoka; Yamamoto, Toshiyuki; Sonoo, Masahiro; Suzuki, Shigeaki; Kondo, Yoshiyuki; Nakamura, Harumasa; Mitsuhashi, Kana; Maeda, Meiko Hashimoto; Shimizu, Jun; Hayashi, Yukiko K.; Nishino, Ichizo; Oya, Yasushi; Murata, Miho.

In: Journal of Clinical Neuromuscular Disease, Vol. 17, No. 4, 01.06.2016, p. 197-206.

Research output: Contribution to journalArticle

Ikeda, K, Mori-Yoshimura, M, Yamamoto, T, Sonoo, M, Suzuki, S, Kondo, Y, Nakamura, H, Mitsuhashi, K, Maeda, MH, Shimizu, J, Hayashi, YK, Nishino, I, Oya, Y & Murata, M 2016, 'Chronic Myopathy Associated with Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy', Journal of Clinical Neuromuscular Disease, vol. 17, no. 4, pp. 197-206. https://doi.org/10.1097/CND.0000000000000115
Ikeda, Kensuke ; Mori-Yoshimura, Madoka ; Yamamoto, Toshiyuki ; Sonoo, Masahiro ; Suzuki, Shigeaki ; Kondo, Yoshiyuki ; Nakamura, Harumasa ; Mitsuhashi, Kana ; Maeda, Meiko Hashimoto ; Shimizu, Jun ; Hayashi, Yukiko K. ; Nishino, Ichizo ; Oya, Yasushi ; Murata, Miho. / Chronic Myopathy Associated with Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. In: Journal of Clinical Neuromuscular Disease. 2016 ; Vol. 17, No. 4. pp. 197-206.
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