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.
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 DNAJB6myopathy 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.
Authors: Katarzyna Haczkiewicz; Agata Sebastian; Aleksandra Piotrowska; Maria Misterska-Skóra; Agnieszka Hałoń; Marta Skoczyńska; Maciej Sebastian; Piotr Wiland; Piotr Dzięgiel; Marzenna Podhorska-Okołów Journal: Rheumatol Int Date: 2018-12-08 Impact factor: 2.631
Authors: James D Triplett; Shahar Shelly; Guy Livne; Margherita Milone; Charles D Kassardjian; Teerin Liewluck; Cecilia Kelly; Elie Naddaf; Ruple S Laughlin; Christopher J Lamb; Devon Rubin; Elliot L Dimberg; Divanshu Dubey; John R Mills; Jay Mandrekar; Christopher J Klein Journal: Brain Commun Date: 2020-12-13