Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared with Sporadic Inclusion Body Myositis

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Objective: To compare the clinical and electrophysiological findings in hereditary inclusion body myopathy (hIBM) and sporadic inclusion body myositis (sIBM) patients. Methods: We retrospectively identified 8 genetically proven hIBM patients and 1 DNAJB6 myopathy with pathological features of hIBM, and compared their clinical, electromyographic, and serological data with a group of 51 pathologically proven sIBM patients. Results: hIBM patients had a younger mean age of onset (36 vs. 60 years, P = 0.0001). Diagnostic delay was shorter in sIBM (6 vs. 15 years, P = 0.0003). Wrist flexors (P = 0.02), digit flexors (P = 0.01), digit extensors (P = 0.02), and quadriceps (P = 0.008) muscles were more frequently affected in sIBM. Fibrillation potentials were more common in sIBM patients (P = 0.03). Electrical myotonia was found in 4 hIBM patients, not significantly different from sIBM patients (P = 0.45). Creatinine kinase was higher in sIBM patients (799 vs 232, P = 0.03). Conclusions: sIBM and hIBM seem to have similar electromyographic changes. The combination of clinical, serological, and histopathological findings can guide genetic testing to the final diagnosis.

Original languageEnglish (US)
Pages (from-to)190-196
Number of pages7
JournalJournal of clinical neuromuscular disease
Volume17
Issue number4
DOIs
StatePublished - Jun 1 2016

Keywords

  • GNE
  • VCP
  • hIBM
  • hereditary inclusion body myopathy
  • vacuolarmyopathy
  • valosin-containing protein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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