Download PDF Muscle Disease: Pathology and Genetics Second Edition by HANS H. GOEBEL

Sinopsis

 

There is a very wide variety of disorders that result in muscle weakness, pain, and wasting. The causes of muscle disease range from disruption of the nerve supply and destruction of segments of muscle fi bers to interference with the function of individual enzymes or proteins within fi bers that characterizes genetic disorders of muscle. Appropriate management and treatment of muscle disease entail close collaboration between clinicians, pathologists, and geneticists, although the balance of involvement of the three groups may vary depending upon the nature of the disease. In adults, muscle diseases are often due to denervation or inflammation as in polymyositis, dermatomyositis, and inclusion body myositis, or to toxic and drug-related myopathies and the effects of aging. However, there is also a growing number of recognized inherited muscle disorders of adult onset. The picture is rather different in children, in whom genetic disorders predominate. During the last two decades, there has been an explosion of research into genetic disorders of muscle and this has changed the way in which clinicians and researchers view muscle disease and challenged the traditional classifi cation of muscle disease. The aim of this book is to review the whole range of muscle disease using the motor unit and the subcellular components of the muscle fi ber to guide the reader through the many different disorders. The concept behind the book is that clinicians, pathologists, and geneticists require an understanding of each other ’ s disciplines to communicate effectively in the quest for diagnosis and appropriate management and treatment of the patient. In some cases, the diagnosis may be obvious from the clinical presentation and from relatively noninvasive investigations such as electromyography (EMG), magnetic resonance imaging (MRI), and measurements of enzymes such as creatine kinase in the blood. Other cases of muscle disease require muscle biopsy to confirm, pathologically, the presence of denervation, an infl ammatory disorder or a reaction to a drug. In a growing number of cases, a muscle biopsy is required to identify the presence of abnormal structures and/or abnormalities in protein expression which, when correlated with clinical features, can aid the identifi cation of a gene defect. This last pathway to diagnosis is often complicated as a defect in one gene may result in a spectrum of phenotypes, or in different phenotypes and pathologies that may overlap with more than one disorder. On the other hand, defects in several different genes may produce similar clinical phenotypes and pathologies. It is the role of this book to set out the pathology and genetics of muscle disease in such a manner that it will guide clinicians, pathologists, and geneticists through the complicated maze of our current understanding of muscle disorders.

Content

1. Assessment of Muscle Disease
2. Neurogenic Muscle Disease
3. Diseases of Neuromuscular Transmission
4. Sarcolemma: Muscular Dystrophies and Related Disorders
5. Disorders of Nuclear Proteins and Nuclear Positioning
6. Early- and Late-Onset Disorders of Myofibrils
7. Disorders Associated with Intermediate Filaments
8. Mitochondria
9. Sarcoplasmic Reticulum and T-tubules
10. Cytoplasmic Proteins
11. Metabolic and Storage Disorders
12. Muscle Diseases with DNA Expansions
13. Facioscapulohumeral Dystrophy
14. Inflammatory Myopathies
15. Toxic Myopathies
16. Aging and Systemic Disease
17. Rare Structural Abnormalities

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