Divyanshu Dubey, Grayson Beecher, M Bakri Hammami, Andrew M Knight, Teerin Liewluck, James Triplett, Abhigyan Datta, Surendra Dasari, Youwen Zhang, Matthew M Roforth, Calvin R Jerde, Stephen J Murphy, William J Litchy, Anthony Amato, Vanda A Lennon, Andrew McKeon, John R Mills, Sean J Pittock, Margherita Milone
Importance: Immune-mediated rippling muscle disease (iRMD) is a rare myopathy characterized by wavelike muscle contractions (rippling) and percussion- or stretch-induced muscle mounding. A serological biomarker of this disease is lacking. Objective: To describe a novel autoantibody biomarker of iRMD and report associated clinicopathological characteristics. Design, Setting, and Participants: This retrospective cohort study evaluated archived sera from 10 adult patients at tertiary care centers at the Mayo Clinic, Rochester, Minnesota, and Brigham & Women's Hospital, Boston, Massachusetts, who were diagnosed with iRMD by neuromuscular specialists in 2000 and 2021, based on the presence of electrically silent percussion- or stretch-induced muscle rippling and percussion-induced rapid muscle contraction with or without muscle mounding and an autoimmune basis...
August 1, 2022: JAMA Neurology