Inclusion-body myositis: a difficult diagnosis?

We report a typical case of IBM, in which diagnosis was possible only after three muscle biopsies. The challenges to confirm histological diagnosis and the caution to avoid repeating tests are discussed.A miosite por corpos de inclusão (MCI) esporádica é a miopatia mais comum acima dos 55 anos de idade. No entanto, em muitos casos, o diagnóstico é negligenciado. Os principais achados incluem fraqueza muscular progressiva, níveis séricos normais ou levemente elevados de creatinoquinase (CK) e ausência de resposta à imunossupressão. A biópsia muscular evidencia reação inflamatória associada com alterações degenerativas das fibras musculares. Apresentamos um caso típico de MCI cujo diagnóstico foi obtido após a realização de uma terceira biopsia muscular. Discutimos os desafios para a confirmação do diagnóstico histológico e os cuidados que podem evitar repetições do exame.
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research

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GNE myopathy is a rare disease, which is also known by other names like Nonaka myopathy, distal myopathy with rimmed vacuoles-DMRV, hereditary inclusion body myopathy-HIBM, Inclusion body myopathy 2-IBM2 and quadriceps sparing myopathy. It has a prevalence of 1-21/1,000,000 population. [1 –5] It is an autosomal recessive disease caused by bi-allelic inheritance of variable mutations in the GNE gene on chromosome 9, encoding a bifunctional enzyme- uridine diphosphate-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase required in sialic acid- 5-N-acetylneuraminic acid (Neu5A c) synthesis, which in turn plays a...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Associations between disease characteristics and payer-relevant outcomes can be difficult to establish for rare and progressive chronic diseases with sparse available data. We developed an exploratory bridging...
Source: Theoretical Biology and Medical Modelling - Category: Biomedical Science Authors: Tags: Research Source Type: research
Authors: Nodera H, Sogawa K, Takamatsu N, Hashiguchi S, Saito M, Mori A, Osaki Y, Izumi Y, Kaji R Abstract Given the recent technological advent of muscle ultrasound (US), classification of various myopathic conditions could be possible, especially by mathematical analysis of muscular fine structure called texture analysis. We prospectively enrolled patients with three neuromuscular conditions and their lower leg US images were quantitatively analyzed by texture analysis and machine learning methodology in the following subjects :  Inclusion body myositis (IBM) [N=11] ; myotonic dystrophy type 1 (DM1) [N=19...
Source: Journal of Medical Investigation - Category: General Medicine Tags: J Med Invest Source Type: research
Abstract p97, also known as valosin-containing protein or CDC48, is a member of the AAA+ protein family that is highly conserved in eukaryotes. It binds to various cofactors in the body to perform its protein-unfolding function and participates in DNA repair, degradation of subcellular membrane proteins, and protein quality control pathways, among other processes. Its malfunction can lead to many diseases, such as inclusion body myopathy, associated with Paget's disease of bone and/or frontotemporal dementia, amyotrophic lateral sclerosis disease, and others. In recent years, many small molecule inhibitors have be...
Source: Current Medicinal Chemistry - Category: Chemistry Authors: Tags: Curr Med Chem Source Type: research
Inclusion body myositis is a chronic muscle-specific disease of adulthood leading to progressive paresis and swallowing difficulties. Muscle biopsy reveals a severe myopathic/dystrophic process with a complex inflammatory infiltrate and presence of protein deposits. Despite the characteristic clinical picture and well-known biopsy findings, the pathogenesis of sIBM is still elusive and not fully understood. In the current study, we applied unbiased proteomic profiling and identified the chaperone and cell surface marker CD74, the macrophage scavenger molecule CD163 and the transcription activator STAT1 to be among the high...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Molecular pathogenesis of sporadic inclusion body myositis (sIBM) is complicated and poorly understood. It is, however, necessary to understand in order to implement a suitable therapeutic option. Due to the coexistence of inflammatory and muscle degenerative features, it is challenging to ascertain the underlying cause of muscle degeneration. Using an unbiased approach, we performed whole transcriptome analysis on microdissected biopsies of 41 human skeletal muscle samples, which include clinically and histopathologically defined sIBM, a myopathy control with clear genetic and histopathologic evidence and a non-muscle phenotype control.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Inclusion body myositis (IBM) is a sporadic clinicopathologically defined myopathy characterised by finger flexor and quadriceps weakness, along with the histological triad of endomysial autoaggressive inflammation, rimmed vacuoles and protein aggregates. Rare familial occurrences of IBM have however been reported. We have identified 3 such families. Families 1 and 2 consisted of pairs of affected siblings, while family 3 consisted of a mother and her two children. The onset of symptoms was between 55 and 73 years.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Fundamental obstacles to the development of therapies for sporadic inclusion body myositis (IBM) include our limited understanding of disease pathogenesis as well as a lack of animal models. The primary invasion of myofibers by CD8+ T cells, an increased association of IBM with specific HLA haplotypes and other autoimmune diseases, and the presence of autoantibodies in many patients suggests that IBM is primarily an autoimmune disease. However, an association with aging, a lack of response to immunotherapy, and presence of ubiquitinated protein aggregates suggest the immune response may be secondary to myodegeneration.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Sporadic inclusion body myositis (sIBM) is an intractable progressing inflammatory myopathy frequently affects elderly people. Lack of effective treatments and unclearness of pathogenesis in sIBM may be associated with absence of appropriate animal models. Recently, autoantibodies recognizing cytoplasmic 5 ′-nucleotidase 1a (cN1A) have been found in the sera of sIBM patients. However the roles of the anti-cN1A autoantibodies and autoreactive T cells are still unknown. In the current study, we aimed to generate the active immunization mouse model by cN1A peptides to realize the pathogenesis of sIBM.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Inflammatory idiopathic myopathies (IIM) are a heterogeneous group of disorders ranging from muscle specific auto-immune diseases to systemic ones (dermatomyositis (DM), anti-synthetase syndrome (ASyS), immune-mediated necrotizing myopathy (IMNM) and inclusion body myositis (IBM)). Recent insight into DM pathogenesis highlighted the role of type I interferon (IFN) and the level of IFN-pathway activity is linked to those of the disease. The aim of this study was to measure IFN- α, β and γ seric level in the different groups of myositis using an ultrasensitive detection technology to evaluate IFN-α as ...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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