Inclusion Body Myositis | Johns Hopkins Medicine Survival and cancer risk in an unselected and complete Norwegian idiopathic inflammatory myopathy cohort. How do you help distinguish those things or do you just know, make the diagnosis and then think, "Ah, this one tends to be genetic and possibly do genetic testing or checking other family members?". So there's a handful of autoimmune diseases that people can develop with this, but those are the main two. Tasca G, Monforte M, De Fino C, Kley RA, Ricci E, Mirabella M. Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis. Nicolau S, Liewluck T, Milone M. Myopathies with finger flexor weakness: not only inclusion-body myositis. Diagnosis and clinical development of sporadic inclusion body myositis and polymyositis with mitochondrial pathology: a single-center retrospective analysis. (2013) 16:3318. I want to know from you, is there anything else you would like the audience to know about the Peter Frampton Myositis Research Fund, anything coming up? This clinical heterogeneity made it challenging to have an outcome measure with sound reliability and content validity. Furthermore, the lack of congophilic deposits or tubulofilaments was the most common reason why patients with IBM failed to fulfill various diagnostic criteria in one study (31). Received: 15 August 2022; Accepted: 12 September 2022; Published: 27 September 2022. doi: 10.1093/brain/awr217, 14. (2016) 87:3738. doi: 10.55563/clinexprheumatol/r625rm, 47. He said, "You can tell." Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases. Dr. Steven Greenberg:Yeah, you always try and give people the best possible information to make their own decisions. It says, "Music saves.". Rapamycin (sirolimus) was considered due to its immunosuppressive effect and ability to enhance autophagy by inhibiting the mammalian target of rapamycin (mTOR) that is an autophagy inhibitor (97). Okay? Curr Opin Rheumatol. However, the full results for this study and many of the mentioned trials have not been published yet in peer-reviewed journals. Rutkove SB, Parker RA, Nardin RA, Connolly CE, Felice KJ, Raynor EM, et al. The complexity of IBM histopathology and disease mechanisms sparked an ongoing debate on whether the disease is primarily inflammatory or neurodegenerative in nature (98). (2021). Winkler M, von Landenberg C, Kappes-Horn K, Neudecker S, Kornblum C, Reimann J. In contrast, there is no evidence for increased prevalence of neurodegenerative diseases or solid cancers in IBM population (9, 10). Zanusso G, Vattemi G, Ferrari S, Tabaton M, Pecini E, Cavallaro T, et al. The n-of-1 clinical trial: the ultimate strategy for individualizing medicine? Dr. Steven Greenberg:Oh, sure. Peter Frampton:So I'm very lucky. Inclusion body myositis and myopathies. A more detailed review of these pathways is out of the scope of this review article, some of them are nicely summarized in (82, 83). No use, distribution or reproduction is permitted which does not comply with these terms. Inclusion body myositis (IBM) is a sporadic muscle disease of aging, almost exclusively affecting individuals over the age of 40 (1). Kim J, Kundu M, Viollet B, Guan KL, AMPK. (2001) 24:152634. Clin Sci. Many institutions only perform muscle biopsies from the quadriceps, especially when performing a punch biopsy. It remains debatable whether this should be considered a separate entity, given the high prevalence of mitochondrial abnormalities in IBM and as a significant proportion of these patients are eventually diagnosed with IBM (3941). To learn more about inclusion body myositis or IBM, we caught up with Steven Greenberg, MD, professor of neurology at Harvard Medical School, where he is a neuromuscular neurologist, who also is involved in numerous clinical trials. But he said, "You will. doi: 10.1097/BOR.0b013e3282efdc7c, 83. Lithium was considered because it inhibits glycogen synthase kinase-3 (GSK). Brain. In addition to prednisone and IVIG, other agents targeting the immune system that have been tried in IBM include: azathioprine, methotrexate, antithymotcyte globulin, etanercept, anakinra, alemtuzumab, natalizumab and IFN1A (90). doi: 10.1093/brain/aww024, 55. Amlani A, Choi MY, Tarnopolsky M, Brady L, Clarke AE, Garcia-De La Torre I, et al. Inclusion Body Myositis: What Most Impacts Patients' Lives Evaluation and construction of diagnostic criteria for inclusion body myositis. novel findings provide insight into nature of filaments. I've never seen so many passionate people who come to work and are so optimistic when it's so depressing. doi: 10.1002/mus.1178. The few studies of exercise effects in inclusion body myositis as well as clinical experience indicate that these patients might need to exercise more frequently to be able to achieve clinically meaningful improvements in the most affected muscle groups (Johnson et al. Dr. Audrey Nath:You mentioned that sometimes when you see people it's actually been several years probably since their symptoms started. Dobloug GC, Garen T, Brunborg C, Gran JT, Molberg . (2022) 14:eabi9196. Effects of blood-flow restricted resistance training on mechanical muscle function and thigh lean mass in sIBM patients. Dr. Audrey Nath:Sure. We're here to help people from different specialties, primary care, neurologists, rheumatologists, all sorts of different people are here to think through these issues and help try to find out the diagnosis. Hum Mol Genet. Furthermore, dysphagia is highly prevalent in IBM, with aspiration pneumonia, in addition to respiratory complications of the disease, being the most common cause of death (9, 1416). Dr. Audrey Nath:Yes, it is tricky to diagnose because it looks like several other conditions, including ALS. doi: 10.1093/rheumatology/keac379, 10. Validity and reliability of the Eating Assessment Tool (EAT-10). (2011) 30:346. The small sample size, the low percentage of muscle fibers displaying rimmed vacuoles, and the limited follow up time were acknowledged as study limitations. Ann Neurol. Rimmed vacuoles and congophilic deposits had no notable (k < 2) or statistically significant correlation with any clinical variable (27). Neurology. Walter MC, Lochmller H, Toepfer M, Schlotter B, Reilich P, Schrder M, et al. Dr. Steven Greenberg:An EMG test involves roughly two parts. Follistatin gene therapy for sporadic inclusion body myositis improves functional outcomes. Further research is needed to better understand disease pathogenesis and identify novel therapeutic targets. The muscle weakness steadily progresses over time with a variable decline rate, although progression may be more pronounced earlier in the disease course (11, 12). Less common presentations include isolated dysphagia, asymptomatic hyper-CKemia, and axial or limb weakness beyond the typical pattern. It's been my pleasure. My personal favourite was the recently installed "Rambo" carving. J Neurol. As a result, patients most commonly present with either hand grip or lower limb weakness (e.g., difficulty with stairs, or difficult rising from a low seat), often asymmetric. Inclusion body myositis - Living with the Disease - Genetic and Rare Dr. Audrey Nath:Oh, the Farewell Tour tickets? Arthritis Care Res. I haven't dealt with it." Phase 2 trial was recently completed and the primary outcome was reportedly not met. (2011) 134(Pt 11):317684. Has that helped you at all? That's interesting. Sensitivity and clinical utility of the anti-cytosolic 5'-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: report of 40 patients from a single neuromuscular center. doi: 10.1136/jnnp-2014-310008, 60. And I thought, "Oh God. Most epidemiologic studies in IBM focused on estimating the incidence and prevalence of the disease. Brain. The findings are usually more prominent in weaker muscles, such as flexor digitorum profundus and quadriceps. Various interventions may temporarily improve, but not completely resolve, dysphagia in individuals with inclusion body myositis (IBM), according to study findings published in Rheumatology. Dr. Steven Greenberg:Well, sure. Semin Arthritis Rheum. You must register through Healthlinks and NOT with the clinic directly. doi: 10.1136/annrheumdis-2014-206691, 49. Inclusion body myositis can be associated with cytosolic 5-nucleotidase 1A antibodies. Brain. Combining MHC-I with MHC-II is reported to increase specificity to for the diagnosis of an inflammatory myopathy, however, MHC-II staining on muscle is not widely available yet (37). So, I said, "Well, where do I go?" Lloyd TE, Christopher-Stine L, Pinal-Fernandez I, Tiniakou E, Petri M, Baer A, et al. Dr. Daniel Correa:This helps others find the Brain & Life Podcast. And I'm pretty sure he didn't say definitively, but he said, "You need to go for a muscle biopsy and find out for sure." Custer SK, Neumann M, Lu H, Wright AC, Taylor JP. Dr. Audrey Nath:I'm curious. Oh, wow. Cytosolic 5'-nucleotidase 1A as a target of circulating autoantibodies in autoimmune diseases. Annu Rev Med. And it was just fascinating to speak with him about what it's been like to have a muscle disorder. That's a flight. Ann Neurol. Through our dedicated staff and generous volunteers, we provide support services . And how old are they? At Kawkawa lake!1 hour from Vancouver Hope Awaits you! J Clin Neuromuscul Dis. It's used throughout neuromuscular disease for different types of problems. So what is it?" Dr. Audrey Nath:And basically when you're on tour, do you think you'll make other accommodations? Neuromuscul Disord. You can also reach out by email at blpodcast@brainandlife.org. Thank you, Audrey. doi: 10.3233/JND-160198, 7. doi: 10.1146/annurev-med-050715-104343, 100. Inclusion Body Myositis: Update on Pathogenesis and Treatment - Springer (2014) 24:102535. 88. Papadimas GK, Kokkinis C, Xirou S, Chrysanthou M, Kararizou E, Papadopoulos C. Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature. Dr. Daniel Correa:Wow, I'm really looking forward to hearing how he just gets on tour and how he moves through with, despite this diagnosis. Dr. Audrey Nath:When you see patients, what is the first thing they usually notice? What do you think it is? Neuromuscul Disord. Neuromuscul Disord. Interventions May Improve Dysphagia in Patients With Inclusion Body However, the term hIBM (vs. sporadic IBM or sIBM) may be misleading, as it implies it is the hereditary form of the same disease, while indeed these are two different diseases with different clinical phenotype, disease course, and patient demographics. Dr. Audrey Nath:Oh, okay. Jrgensen AN, Aagaard P, Frandsen U, Boyle E, Diederichsen LP. (2013) 1:29. doi: 10.1186/2051-5960-1-29, 35. Although confounding factors could not be excluded in both study, it'd be best to avoid empiric treatment with corticosteroids or other immunosuppressants given the lack of evidence to support their efficacy in IBM. So for IBM, there are things which are very clear. (2022) 98:e174e85. Asymptomatic hyper-creatine-kinase-emia as sole manifestation of inclusion body myositis. Front. Hopefully, please keep working. There is no evidence-based pharmacological therapy for IBM. Peter Frampton on Rockin' for Research to Cure Inclusion Body Myositis This includes offering adaptive strategies or assistive devices (walker, bracing, wheelchair etc.) Whereas 18-20% of patients develop symptoms . doi: 10.1002/mus.24661, 50. New Hope provides housing and support services for refugee families as they transition into life in Canada. THE 15 BEST Things to Do in Hope - 2023 (with Photos) - Tripadvisor Also, this site uses cookies. Then it can also, Sjogren's also affects other organs as well. Dr. Audrey Nath:That's awesome. A more precise definition of involved, especially non-inflammatory, pathways, more reliable and valid outcome measures, and more variety in identified therapeutic targets are essential in order to make significant advancement in treating the disease. Dr. Greenberg explains the characteristics of IBM as well as the similarities and differences between other neuromuscular diseases, such as ALS and Sjgrens syndrome. And so they can all produce similar symptoms like I have trouble walking or I have trouble using my arms, but physical examination, sometimes even the nature of the symptoms can help to distinguish between whether we're dealing with a brain or spinal cord disease versus a peripheral nerve disease versus a muscle disease. And I said, "Something's going on here." What do you tell them about treatment or therapies and what they should do moving forwards? Long-term follow-up of sporadic inclusion body myositis treated with intravenous immunoglobulin: a retrospective study of 16 patients. Myopathy is used because inflammation is not a prominent finding. He said, "Something's going on here." It's not a diagnosis that's often made very easily by physicians, certainly not by general practitioners. Badrising UA, Maat-Schieman ML, van Houwelingen JC, van Doorn PA, van Duinen SG, van Engelen BG, et al. (2018) 69:43749. And yeah, if one person listening to this gets an idea that might help them, that's awesome. Prefer email?Sign-up for our email newsletter. Ahmed M, Machado PM, Miller A, Spicer C, Herbelin L, He J, et al. doi: 10.1042/CS20160080, 79. Archives Neurol. Sci Transl Med. Photograph by Austin Lord Per Med. (2009) 278:259. 13:1020113. doi: 10.3389/fneur.2022.1020113. The symptoms and rate of progression vary heavily from person to person. Inclusion body myositis. Ansari B, Salort-Campana E, Ogier A, Le Troter Ph DA, De Sainte Marie B, Guye M, et al. When did you start to notice that something was changing with your body? doi: 10.1080/03009742.2017.1423109, 90. Quantitative muscle MRI study of patients with sporadic inclusion body myositis. Search for a Family Doctor in Hope accepting new patients. Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. It's not so much for me, even though I need to say goodbye, even though I don't say goodbye. doi: 10.1016/j.jns.2008.12.024, 68. For the oropharyngeal weakness, treatment consists mostly of adaptive strategies such as eating specific consistencies or volumes to avoid aspiration. These syndromes mostly occur in middle-aged patients, while juvenile DM occurs in children and adolescents. (2000) 123 (Pt 10):20309. Have you been doing physical therapy? Neurology. pilot randomized trial of oxandrolone in inclusion body myositis. Dr. Audrey Nath:That is amazing. The myositis syndromes include polymyositis, dermatomyositis (DM), necrotizing myopathy, inclusion body myositis (IBM), antisynthetase syndrome and overlap syndromes with myositis. In addition to the limited sampling frame in general due to disease rarity, powering clinical trials to detect differences among patient subgroups, such as early vs. late in the disease course, disability profile, race, or sex, would affect feasibility, especially that all currently considered or in-trial drugs are expected to have, at best, a stabilizing or modest effect. Neurology. Clin Exp Rheumatol. Figure 2. Peter Frampton:And I went backwards. Neurol. Objective: This study identifies the health care costs and utilization, as well as comorbidities, in a Medicare population of inclusion body myositis (IBM) patients. doi: 10.1002/ana.23840, 46. Dr. Steven Greenberg:Patients often move on to general neurologists or rheumatologists at that point. doi: 10.1016/j.expneurol.2006.12.014, 81. (2019) 10:745. doi: 10.3389/fimmu.2019.00745, 64. Sangha G, Yao B, Lunn D, Skorupinska I, Germain L, Kozyra D, et al.