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Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD), now more commonly referred to as multisystem proteinopathy (MSP), is an autosomal dominant condition caused by mutations in VCP, HNRPA2B1 or HNRNPA1; it is a multisystem degenerative disorder that can affect muscle, bone, and/or the central nervous system.
Inclusion body myositis (IBM) (/ m aɪ oʊ ˈ s aɪ t ɪ s /) (sometimes called sporadic inclusion body myositis, sIBM) is the most common inflammatory muscle disease in older adults. [2] The disease is characterized by slowly progressive weakness and wasting of both proximal muscles (located on or close to the torso ) and distal muscles (close ...
Inflammatory myopathy, also known as idiopathic inflammatory myopathy (IIM), is disease featuring muscle weakness, inflammation of muscles , and in some types, muscle pain . The cause of much inflammatory myopathy is unknown ( idiopathic ), and such cases are classified according to their symptoms and signs , electromyography , MRI , and ...
Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone, and/or the central nervous system.MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. [1]
Inclusion bodies of aggregations of multiple proteins are also found in muscle cells affected by inclusion body myositis and hereditary inclusion body myopathy. [1] Inclusion bodies in neurons may accumulate in the cytoplasm or nucleus, and are associated with many neurodegenerative diseases. [2]
In cardiology, genetic conditions such as Brugada syndrome can share features with related disorders caused by mutations in the same gene.An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak sodium current leading to the typical ECG features of Brugada syndrome, but which simultaneously increases the sustained ...
Disease-related peptides fit into these "slots" much like a hand fits into a glove. When bound, peptides are presented to T-cells. T-cells require presentation via MHC molecules to recognize foreign antigens—a requirement known as MHC restriction. T-cells have receptors that are similar to B-cell receptors, and each T-cell recognizes only a ...
Although they vary in particulars, polymyositis, dermatomyositis and inclusion body myositis are idiopathic inflammatory myopathies (IIM) [1] primarily characterized by chronic inflammation of human skeletal muscle tissue [2] that ultimately causes the necrosis of muscle cells. This degeneration leads to muscle tissue wasting, weakness and ...