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In.Ammatory Muscle Diseases Review Article Inß ammatory muscle diseases F. L. Mastaglia Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, 6009, Australia The three major immune-mediated inß ammatory myopathies, features and etiologies. The latest classification of dermatomyositis (DM), polymyositis (PM) and inclusion these disorders is shown in Table 1. Focal or at times body myositis (IBM), each have their own distinctive clinical more widespread forms of myositis can be caused features, underlying pathogenetic mechanisms and patterns by viral, bacterial, fungal, protozoal or parasitic of muscle gene expression. In DM a complement-dependent microorganisms and the clinical and pathological humoral process thought to be initiated by antibodies to features and treatment of these infective forms of [1,2] endothelial cells results in a microangiopathy with secondary myositis are well-documented in other reviews. The ischemic changes in muscles. On the other hand, in PM present review will deal with those forms of myositis and IBM there is a T-cell response with invasion of muscle which have an immune basis, which are the ones most [3] Þ bers by CD8+ lymphocytes and perforin-mediated cytotoxic commonly encountered in neurological practice, necrosis. In IBM degenerative changes are also a feature and will consider the latest pathogenetic concepts and comprise autophagia with rimmed vacuole formation as well as current approaches to their diagnosis and and inclusions containing β-amyloid and other proteins treatment. whose accumulation may be linked to impaired proteasomal function. The relationship between the inß ammatory and ClassiÞ cation degenerative component remains unclear, as does the basis for the selective vulnerability of certain muscles and As shown in Tables 1 and 2, these conditions fall the resistance to conventional forms of immunotherapy in into a number of diagnostic categories on clinical most cases of IBM. Patients with DM or PM usually respond and pathological grounds. The three major forms are: to treatment with glucocorticoids and immunosuppressive dermatomyositis (DM) and polymyositis (PM), both of agents but their use remains largely empirical. Intravenous which can occur in isolation or as part of a systemic immunoglobulin therapy can be used to achieve disease connective tissue disease (‘overlap syndrome’), and control in patients with severe weakness or dysphagia, or inclusion body myositis (IBM). The relative frequency in patients with immunodeÞ ciency, but its use is limited by of these conditions varies in different populations expense. Emerging therapies for resistant cases include but it is generally recognized that DM and IBM are TNFα inhibitors (etanercept, inß iximab) and monoclonal the most common forms, while PM is uncommon in antibodies (rituximab, alemtuzumab). However, experience isolation but is more likely to occur as part of a more with these therapies is still limited and there is a need for widespread overlap syndrome. Sporadic IBM is now randomized trials to test their efÞ cacy and establish guidelines recognized as being the most common progressive for their use in clinical practice. myopathy manifesting over the age of 40 years, Key words: Dermatomyositis, inclusion body myositis, with a reported prevalence of 5-13 per million in inflammatory myopathies, pathogenesis, polymyositis, Caucasian populations in Europe, North America and [4] treatment Australia. However, there is little prevalence data from other parts of the world and this warrants further investigation. Inclusion body myositis can rarely also Introduction be familial[5,6] and should then be differentiated from the hereditary forms of inclusion body myopathy, The inflammatory myopathies are a heterogeneous such as that caused by mutations in the GNE gene, group of diseases with diverse clinicopathological in which myositis does not occur.[7] Professor F. Mastaglia Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, 6009, Australia. E-mail: ß [email protected] Neurology India | July-September 2008 | Vol 56 | Issue 3 263 Mastaglia: Inß ammatory myopathies Table 1: ClassiÞ cation of inß ammatory myopathies cervical or lower paraspinal muscles may occur in A. Infective forms scleroderma and such patients may present with the • Viral (Coxsackie B, inß uenza A & B, HIV) ‘dropped head’ sign or camptocormia. Involvement • Bacterial (Streptococcus, staphylococcus, clostridia, TB) of the facial and ocular muscles is uncommon in • Fungal (Candidiasis, coccidiodomycosis) any of the inflammatory myopathies but bulbar and • Protozoal (Toxoplasmosis, sarcocystosis) • Helminthic (Trichinosis, cysticercosis, Haycocknemia) respiratory muscle involvement may occur in severe B. Auto-immune (idiopathic) cases. Dysphagia is common particularly in patients Generalized with IBM.[4] • Inclusion body myositis In contrast to the other forms of inflammatory • Dermatomyositis • Polymyositis myopathy which are more common in females, IBM • Overlap syndromes more often affects males and has a slower and more • Necrotizing myopathy (paraneoplastic) insidious clinical course with a predilection for certain • Eosinophilic myositis muscle groups.[4,8] These include the quadriceps • Granulomatous myositis Focal forms femoris and the forearm flexor muscles [Figures 1 • Localized nodular myositis and 2] which undergo progressive weakness and atrophy • Monomelic myositis during the course of the disease and are usually more • Angiopathic myositis severely affected on the non-dominant side of the body. • Eosinophilic myositis [4,9] • Macrophagic myofasciitis The presenting symptoms include difficulty rising • Inß ammatory pseudotumor from chairs or walking up stairs, falls and difficulty • Orbital myositis in manipulating objects with the fingers. The order in which these muscle groups are affected is variable and, with progression of the disease, other muscle groups are Clinical Features also affected with increasing disability and impairment of mobility leading to the need to use a walking aid or Although the skeletal muscles are involved diffusely wheelchair after 10-15 years. in each of the three main forms of inflammatory When present, the cutaneous changes of DM on the myopathy, different patterns of muscle involvement face (heliotrope rash), hands and elbows (Gottron’s are recognizable and can be helpful diagnostically. In patches) and trunk (shawl sign) are distinctive and DM and PM the muscle weakness usually develops diagnostic of that condition [Figure 1]. However, they subacutely and is diffuse and non-selective, but with may be inconspicuous or even absent at the time of a proximal emphasis, and is more severe in the upper presentation and are easily overlooked, particularly in limbs in some cases of DM. Muscle pain and tenderness individuals of dark complexion. Conversely, in some are sometimes present in DM but are often absent. A cases of DM the cutaneous changes predominate and more restricted form of myositis involving the scapular, muscle involvement is minor or absent (‘amyopathic’ Table 2: Clinical and histopathological characteristics of the three major forms of inß ammatory myopathy Dermatomyositis Polymyositis Inclusion body myositis Clinical Skin changes Yes No No Weakness Proximal > distal Proximal > distal Distal + proximal Subcutaneous calcinosis Yes No No Necrotizing angiitis Yes (juvenile form) No No Association with Other CTD Uncommon Yes Rare Association with malignancy Yes (adult form) Yes No Association with HIV infection Rare Yes Yes Histopathology Muscle Þ ber necrosis Single Þ bers or groups Single Þ bers Single Þ bers Microinfarcts Yes (juvenile form) No No Capillary depletion Yes No No Perifascicular atrophy Yes No No Inß ammatory cells (predominant types) B cells, CD4+ cells CD8+ cells, CD8+ cells, dendritic cells dendritic cells, dendritic cells, macrophages macrophages Cytochrome oxidase negative Þ bers* No No Yes Complement deposition (C5b-9) Yes No No MHC-I/II upregulation Yes Yes Yes Rimmed vacuoles Rare Rare Yes Tubulo-Þ lamentous inclusions No No Yes β-amyloid deposits No No Yes 1Increased numbers for age 264 Neurology India | July-September 2008 | Vol 56 | Issue 3 Mastaglia: Inß ammatory myopathies A C B D Figure 1: (A) Facial rash in a young man with dermatomyositis, (B) Gottron patches on the hands of a woman with dermatomyositis, (C) Elderly female with IBM showing wasting of the forearms and severe weakness of the Þ ngers, (D) Severe bilateral atrophy of the quadriceps femoris muscles in an elderly male with IBM DM). Subcutaneous calcinosis may also occur, malignancy, but up to 20% of such patients may have particularly in cases of juvenile DM, but also in the a paraproteinemia or an associated connective tissue adult form, and may be severe and widespread. disease or other autoimmune disease and the condition can also occur in individuals with HIV, HTLV-1 infection. Association with Malignancy [13,14] Laboratory screening for a paraproteinemia, retroviral infection and these other conditions should The association with malignancies of various types therefore be carried out in all cases. is seen particularly in adult patients with DM. The risk of a malignancy is greatest in the five-year period Diagnosis preceding presentation and in the first five years after diagnosis of the myositis.[10,11] It is therefore Accurate diagnosis of the type of inflammatory important that
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