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Lawrence J. Kagen (editor) - The Inflammatory Myopathies

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The Inflammatory Myopathies
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Lawrence J Kagen editor
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Humana
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2009
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This book presents a comprehensive review of the inflammatory myopathies, including dermatomyositis, polymyositis, and inclusion body myositis. Representing the most up-to-date knowledge on this family of diseases, this book is the gold-standard in its field.

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Lawrence J. Kagen (ed.) The Inflammatory Myopathies 10.1007/978-1-60327-827-0_1 Humana Press, a part of Springer Science+Business Media, LLC 2009

1. Evaluation of the Patient

Lawrence J. Kagen 1

(1)

Department of Rheumatology, Weill Medical College of Cornell University, Hospital for Special Surgery, New York Presbyterian Hospital, New York, NY, USA

Lawrence J. Kagen

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Abstract

The evaluation of the patient with inflammatory myopathy takes into account the history, physical findings, and ancillary examinations, including laboratory assessment, electromyography, imaging studies, and muscle biopsy. Weakness and its pattern of presentation are the cardinal features. Rash should also be evaluated, if present. Beyond these systems, the possibility of pulmonary, gastrointestinal, or cardiac involvement should be considered and vascular abnormalities, as well as calcification, noted. In active disease, elevation of the activities of certain enzymes in the serum (e.g., creatine kinase) and of serum myoglobin will reflect their loss from muscle tissue and may serve as guides to disease severity or course. Clinical evaluation of these elements, carried out in an ongoing manner, can be used to assess progress and response to therapy.

Keywords

Weakness Myalgia Enzymes Myoglobin Creatine kinase

1.1 Introduction

Skeletal or voluntary muscles represent, in the aggregate, approximately 4045% of our bodys weight. The contractile proteins, the molecular mechanisms inherent in muscle structure, account for its ability to contract, relax, and develop force. As a consequence of this property, movement is made possible. Locomotion, skill of performance of tasks, and even the quality of voice depend on the integrity and function of our muscles. The image we present to the world and to ourselves therefore relates in large measure to this tissue system. In this regard, it might be imagined that because of the prominence and visibility of muscle function, disorders of the voluntary muscles would be immediately apparent. However, disorders of the muscular system, the myopathies, in some cases may go undiagnosed for long periods of time.

There are in general two reasons for this seeming paradox. First, muscular dysfunction can arise insidiously and slowly and cause subtle changes that may not be immediately evident. Second, it may be difficult to assign symptoms of muscle disease to the skeletal muscles even when abnormalities in their function are recognized. Symptoms such as weakness or fatigue may be ascribed to other causes or to other organ systems. Even when myopathy is considered and a diagnosis is made, the assessment of its course and the clinical state of the affected individual may at times be difficult to delineate with precision ( ) .

The recognition of myopathy generally begins with symptoms of weakness, fatigue, or muscle pain. As mentioned, the relation of these symptoms to muscle dysfunction may initially be difficult to ascribe. This is particularly true early in the course of inflammatory myopathy. For example, in inclusion body myositis, which usually affects older individuals, symptoms may be thought to be due to the natural course of aging or to poor conditioning rather than to a pathological process of muscle. If present, cardiovascular, pulmonary, or metabolic comorbidities can confound the diagnosis. Further, techniques of physical examination may lack the sensitivity needed to detect small changes in strength from normal or from what was earlier present.

All of this presents the paradox of a large and evident tissue system whose dysfunction may yet remain enigmatic and elude diagnosis. For these reasons, in appropriate situations, the presence of myopathy should be considered and the history taken and physical examination performed with this possibility in mind.

1.2 Clinical Findings

1.2.1 Weakness

Weakness is a prominent feature of myopathic states. It is important to ascertain which muscle groups are involved and the degree to which they are affected. Most symptoms in patients with inflammatory myopathies are prominent in proximal musculature.

With involvement of these muscles in the upper extremity, patients will experience difficulty in lifting objects, particularly overhead; brushing the hair; using a hair dryer; hanging up clothing; or putting objects into cabinets or the refrigerator. In acquiring the history, it is good to make note of specifics, such as the weights or types of objects, that cause difficulty. This will prove useful for comparison over time in assessing progress or response to therapy.

Weakness of the proximal musculature in the lower extremity is manifested by difficulty in arising from a chair or toilet seat, going up or down stairs, getting out of an automobile, or lifting the legs to put on pants or other garments. Again, to the degree possible, specifics should be noted.

Symptoms arising in distal musculature usually suggest more severe or more chronic forms of myositis. Difficulty in writing or opening jars is noted with upper extremity distal involvement; tripping on curbs or uneven surfaces occurs with muscle dysfunction of the lower extremities. In inclusion body myositis, however, distal weakness can be present initially. A peculiarly weak handshake with fingers not capable of full firm flexion may be a clue to this illness when the physician first meets the patient. Myotonic dystrophy and the myopathy associated with anti-signal recognition particle (anti-SRP) antibodies are two other examples of myopathies with distal weakness occurring early in the course of illness.

Proximal lower extremity and pelvic girdle weakness make it difficult to arise from the floor after a fall. This can be frightening, and patients affected in this manner can be forced to creep to an article of furniture, or to a means of communication, to secure help in standing. Weakness of the trunk and abdominal muscles may prevent arising from the supine position when in bed. In this case, affected individuals will try to arise by rolling laterally, swinging the legs downward while pushing against the bed with the arms.

The etiology of muscle weakness in patients with myositis likely is multifactorial. Cellular, immune damage, and destruction with resulting loss of myofibers as well as inefficiency of the contractile process in the inflammatory milieu are important elements. In addition, nonimmunological processes resulting from class 1 major histocompatibility complex (MHC) molecule overexpression may initiate endoplasmic reticulum (ER) stress responses. These may arise from overload of the ER with newly synthesized, unfolded peptides, which can then lead to the upregulation of proteolytic, destructive pathways ( lists the areas of weakness seen in several of the musculoskeletal disorders.

Table 1.1

Weakness in musculoskeletal disorders

Proximal musculature

Most myopathies, including myositis syndromes and muscular dystrophy

Distal musculature

Inclusion body myositis

Myotonic dystrophy

Distal myopathies

Neurogenic disorders (e.g., neuropathy, radiculopathy, myelopathy)

Facial musculature

Facioscapular humeral dystrophy

Myasthenia gravis

Myotonic dystrophy

Mitochondrial myopathy (e.g., Kearns Sayres syndrome)

Cranial nerve disorders and central nervous system conditions (e.g., Bells palsy, myasthenia gravis, cerebrovascular accident)

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