May 20, 2016 idiopathic inflammatory myopathies are a group of varied presentations and pathogenesis. There are many different types of congenital myopathies, but most share common features, including lack of muscle tone and weakness. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that todays audiences expect. The iim are classified on the basis of patterns of presentation, age of onset, immunohistopathologic features, and response to treatment 36. Myofibrillar myopathies mfm are a clinically and genetically heterogeneous group of. Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Also, myopathies are usually nonprogressive that is, a myopathy usually doesnt grow worse over a persons lifetime. The patient was a 16yearold chinese adolescent boy undergoing a posterior correction at thoracic 2lumbar 3 t2l3 levels using the mosssi spinal system. Abnormalities of muscle cell structure and metabolism lead to various patterns of weakness and dysfunction. Classic symptoms of the metabolic myopathies, including exertional fatigue, myalgias, cramping or contractures, and myoglobinuria may emerge during times of high energy demand due to exercise, illness, or fasting. This process leads to the elaboration of a clinical impression, based on symptoms, progression, family history, and. Endocrine myopathies are often seen in disorders of the thyroid and adrenal glands. Chandan n intern, department of medicine, mims, mandya 2. Clinical assessment should aim to distinguish proximal myopathy from other.
Find powerpoint presentations and slides using the power of, find free presentations research about myopathy ppt. Commonly assessed muscles include the deltoid, biceps, triceps, pronator teres. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a. Myopathy enpy 3353 nerve conduction techniques instructor.
Genetic mutations cause mitochondria to fail to produce the energy needed by. The inflammatory myopathies are a group of diseases that involve chronic longstanding muscle inflammation, muscle weakness, and, in some cases, muscle pain. Myopathy is a general medical term used to describe a number of conditions affecting the muscles. Ahuja wilkes honors college, florida atlantic university, jupiter, fl, united states of america abstract mitochondria are small, energyproducing structures vital to the energy needs of the body. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Additional genetic testing may be available through research laboratories. Other signs and symptoms of some congenital myopathies include feeding and breathing difficulties, as.
Muscles can also be affected by systemic illnesses, including connective tissue diseases and endocrinopathies. Different classifications over time have enhanced the diagnostic yield. Nemaline myopathy is the most common of these myopathies and is further subdivided into seven groups. They are progressive but have different time courses and affect proximal or distal muscle groups. Muscle inflammation and weakness occur in both conditions while patients with dermatomyositis also have a rash. The national institute of neurological disorders and stroke ninds and other institutes of the national institutes of health nih conduct research related to congenital myopathies in their laboratories at the nih and also support additional research through grants to major medical institutions across the country. Our new crystalgraphics chart and diagram slides for powerpoint is a collection of over impressively designed datadriven chart and editable diagram s guaranteed to impress any audience. A statindependent qtl for gatm expression is associated with statininduced myopathy. Pdf stepwise approach to myopathy in systemic disease. So, myopathies are a group of diseases that cause muscle weakness, cramps, and spasms due to a primary defect of the muscle fiber.
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness ranging in severity. This rash of dermatomyositis most often appears as purple or red spots on the upper eyelids or as scaly, red bumps over the knuckles, elbows or knees. Accordingly, myopathies can present in a variety of ways, but one of the cardinal features is muscle weakness. The most common muscular dystrophies, duchenne and becker muscular dystrophy, result from a genetic defect on the x chromosome. The inflammatory process leads to destruction of muscle tissue, and is. Idiopathic inflammatory myopathies iim are a heterogeneous group of acquired immunemediated diseases, which typically involve the striated muscle with a variable involvement of the skin and. Jul 06, 2011 myopathies a special and seperate entity with specific features in each disorder making us easy for diagnosis,confirmation by muscle biopsy.
Ppt neuropathies, myopathies powerpoint presentation. Inflammatory myopathies fact sheet national institute of. Pdf muscle diseases can constitute a large variety of both acquired and hereditary disorders. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Inherited myopathies are caused by a genetic defect.
Inflammatory myopathies are associated most commonly with a presumed immunologic attack and include polymyositis pm, dermatomyositis dm, and ibm. Laboratory testing that can be subsequently used to confirm the suspected diagnosis based upon this pattern recognition. Symptoms of weakness and pain often develop over a short period of time. In fact, some children with myopathies gain strength as they grow older. These diseases have many causes, signs and symptoms as well as treatments. In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. Endocrine myopathies are caused by the over or underproduction of hormones. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multimini core disease. These basic rules explain at least in part the extraordinary inter and intrafamiliar clinical and biochemical heterogeneity of mtdnarelated disorders. Proper diagnosis and treatment raise the chance of living life fully despite this illness. Myopathies are defined as diseases of skeletal muscle and can have many causes.
Weakness can affect muscles of the eyes, face, arms, legs, trunk, swallowing, and breathing. Find powerpoint presentations and slides using the power of, find free presentations research about myopathies ppt. Typically, an infant with a congenital myopathy will be floppy, have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. More specifically, myopathies are diseases that cause problems with the tone and contraction of skeletal. There is a broad range of underlying causes including drugs, alcohol, thyroid disease, osteomalacia, idiopathic inflammatory myopathies iim, hereditary myopathies, malignancy, infections and sarcoidosis. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Myopathies with commercially available genetic testing include. Congenital myopathies netherlands pdf ppt case reports.
Table 1 classification of myopathies hereditary channelopathies congenital myopathies metabolic myopathies mitochondrial myopathies muscular dystrophies myotonias acquired druginduced myopathies endocrine myopathies in. Myopathies can present with either constant weakness muscular dystrophies, inflammatory myopathies or episodic periods of weakness with normal strength interictally periodic paralysis, metabolic myopathies due to certain glycolytic pathway disorders. Myopathies in systemic disease results from several different disease processes including endocrine, inflammatory, paraneoplastic, infectious, drug and toxininduced, critical illness myopathy, metabolic, and myopathies with other systemic disorders. Central core disease, mitochondrial myopathies, metabolic disorders glycogen and lipid, disorders of intermediate filaments. Statin drugs are being used more and more frequently, with up to 29. Some myopathies are expected to worsen over time, while some are fairly stable. Dystrophies group of progressive hereditary degenerative diseases of skeletal muscles the innervation of the affected muscles, in contrast to that of the neuropathic and spinal atrophies, is unaffected. Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. Congenital myopathies symptoms and causes mayo clinic. Definition myopathies are disorders with structural changes or functional impairment of muscle. Progressive, symmetric, proximal muscle weakness sensations n dtrs preserved ii.
Nemaline myopathy, also known as rod body disease, develops from birth. The complex nature of the various metabolic pathways involved is reflected in the broad phenotypic presentation of many of these disorders. The inflammatory myopathies include polymyositis and dermatomyositis. Myopathies definition of myopathies by medical dictionary. No specific treatment is available for any of the congenital myopathies, but aggressive supportive care is essential to preserve muscle activity, to allow for maximal functional ability, and to prolong life expectancy.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. A patient that presents with muscle weakness can have any of these. In most cases, cardiomyopathy causes the heart muscle to become enlarged, thick or rigid. Congenital myopathy information page national institute. Myopathies in systemic disease results from several. Myopathies can be inherited such as the muscular dystrophies or acquired such as common muscle cramps. Cardiac myopathies free download as powerpoint presentation.
View and download powerpoint presentations on myopathies ppt. Although inflammatory myopathies may present in a similar fashion, such a pattern should prompt a thorough evaluation for an underlying metabolic myopathy. A previously unreported scoliosis in mitochondrial myopathies is described. Other types of inflammatory myopathy include those caused by muscle infection by parasites, viruses, or bacteria. There are a number of different causes of muscle disease, and consequently, there are a number of different myopathies. Facts about myopathies muscular dystrophy association. Proximal myopathy presents as symmetrical weakness of proximal upper andor lower limbs. A myopathy is a muscle disease, and inflammation is a response to cell damage. Toxic myopathies can be caused by many drugs and toxins. Definition myopathies are diseases of skeletal muscle which are not caused by nerve disorders. Muscle biopsy with immunohistochemical staining presentation material is for education purposes only. Approach to the diagnosis of congenital myopathies.
Polymyositis pm dermatomyositis dm inclusion body myositis ibm antisynthetase. The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs. Myotubular myopathy, also known as centronuclear myopathy, is a slowly progressive disease that causes drooping of the eyelids, foot drop, facial weakness, and other muscle weakness. The more technical term for a muscle fiber is a myocyte. View and download powerpoint presentations on myopathy ppt. Polymyositis pm dermatomyositis dm inclusion body myositis ibm ppt. Myopathies may be divided into two main categories. Description there are many different types of myopathies, some of which are inherited, some inflammatory, and some caused by endocrine problems. Clinical assessment should aim to distinguish proximal myopathy from other conditions that can. If we suspect an acquired myopathy, such as inflammatory myopathy, we may recommend a muscle biopsy to evaluate the structure of the muscle. What to expect after a myopathy diagnosis verywell health. Electrodiagnostic evaluation of myopathies sabrina paganoni, md, phda, anthony amato, mdb introduction the evaluation of patients suspected of having a myopathy begins with a thorough history and clinical examination. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from.
These problems range from stiffness called myotonia to weakness, with different degrees of severity. Pathophysiology polymyositis and inclusion body myositis ibm have autoaggressive cd8 lymphocytes that appear to attack myofibers and suggest an autoimmune role. Myopathies have different causes and may have acute, subacute, or chronic clinical presentations. Pdf idiopathic inflammatory myopathies iim are a group of chronic. Each of the different myopathies has its own specific name, cause, set of diagnostic tests, anticipated prognosis, and treatment. The episodic disorders have acute weakness that can return to normal strength within hours. Druginduced myopathies and, more rarely, rhabdomyolysis, are a common biological and clinical setting for clinical rheumatologists. They are uniquely identified by their clinical presentation consisting of.
However, a major question exists about the etiology of ibm. The two inflammatory myopathies include polymyositis and dermatomyositis. More specifically, myopathies are diseases that cause problems with the tone and contraction of skeletal muscles muscles that control voluntary movements. Mitochondrial myopathies 146regation and, with it, also the clinical expression of the disease can vary both spatially tissues affected and temporally. In some cases, the pathology extends to involve cardiac muscle fibers, resulting in a hypertrophic or dilated cardiomyopathy. Infectious myopathies can be caused by viruses, bacteria, or parasites. It does not include upper motor neuron lesions, lower motor neuron lesions, myasthenia gravis which also causes muscle weakness.
While certain myopathies can present with muscle pains, cramps. Cardiomyopathy refers to diseases of the heart muscle. Dec 28, 2017 myopathy is a muscle disease unrelated to any disorder of innervation or neuromuscular junction. Muscle biopsy with immunohistochemical staining presentation material is. Myalgias, which occur episodically in association with exercise, may suggest a metabolic myopathy. Cholesterol lowering medications, particularly the statins, may be the most commonly prescribed drugs that can cause a toxic myopathy. The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Congenital myopathies are rare muscle diseases present at birth congenital that result from genetic defects. It is acknowledged that the increasing use of exome, targeted subexomic. Enhanced pathological processing and imaging of the muscles have improved the diagnosis. Dermatomyositis is thought to be caused by autoantibodies, possibly targeting an antigen.
Approach to patients with suspected muscle disease bakri elsheikh, mbbs assistant professor department of neurologydepartment of neurology ohio state university medical center objectives pid i fliil hprovide an overview of clinical approach to muscle disease based on patterns of weakness discuss the role of different diagnostic. Newer agents are being investigated for the therapy of iim and may lead to better results. The inflammatory myopathies are a group of muscle diseases that involve inflammation of the muscles or associated tissues, such as the blood vessels that supply the muscles. A clinical approach to muscle diseases university of chicago. At 48month followup, the patient was clinically pain free and well balanced. Muscle diseases can constitute a large variety of both acquired and hereditary disorders. Myopathy refers to a clinical disorder of the skeletal muscles. This meaning implies that the primary defect is within the muscle, as opposed to the nerves neuropathies or neurogenic disorders or elsewhere e. In rare instances, diseased heart muscle tissue is replaced with scar tissue. In this overview, we will provide an approach to the diagnosis of congenital myopathies and a guide to identifying the genetic basis for an individual patient based on clinical clues, muscle imaging mri and histological features on muscle biopsy. Drugrelated myopathies of which the clinician should be aware. These diseases cause the skeletal or voluntary muscles to become weak or wasted. Jackson abstract myopathies areaheterogeneousgroupofdisordersthat affectthemuscle channel.
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