Kornblum Chapter 23 Facio-scapulo-humeral muscular dystrophy H. Description Description Neuromuscular imaging has increasingly become an important tool in the detection and diagsis of inherited and acquired neuromuscular disease. Kliot Part Two: Muscle anatomy and physiology Chapter 8 Introduction D. Clinical Applications in Acquired Myopathies. In addition to imaging findings we include valuable clinical data that can be used to distinguish these genetic disorders. Die Bildgebung ist dabei nicht nur in der Lage, Muskeldegeneration z. Carlier Chapter 30 Clinical applications of periperal nerve imaging A.
Wattjes and Dirk Fischer, offers an excellent overview of these new developments and of the various uses of imaging in neuromuscular disorders. Kliot Part Two: Muscle anatomy and physiology Chapter 8 Introduction D. This book will therefore certainly be a useful guide for the use of various imaging modalities, not only in the diagnostic work-up, but also for prognostic purposes and the monitoring of therapy. Neuromuscular Imaging, a new handbook edited by Mike P. The data were collected retrospectively in 43 patients and prospectively in 3 patients. The material is clearly presented per disorder, with information on genetics, histopathology, clinical presentation as well as up-to-date imaging findings.
In the recent past substantial progress in the genetic assessment and the availability of advanced immuno-histochemical staining techniques formed the beginning of a new era in characterization and classification of inherited muscle disorders. Wattjes Chapter 9 Morphology of skeletal muscle H. Die Bildgebung ist somit eine wertvolle diagnostische Modalität, um die klinische Diagnose zu unterstützen, die Differenzialdiagnose einzugrenzen und somit eine zielgerichtete weiterführende Diagnostik zu ermöglichen. Wattjes Chapter 9 Morphology of skeletal muscle H. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. The aim of this chapter is to provide algorithms based on muscle imaging findings that might be of help for scheduling appropriate genetic testing in patients presenting with clinical and histopathological features consistent with a congenital myopathy, limb-girdle myopathy, or myofibrillar myopathy.
In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%. Although this book is an outstanding summary of the existing applications of neuromuscular imaging, many applications have not yet become daily clinical practice and their relative value over, on the one hand, routine tests such as muscle biopsy and electrodiagnostic testing and, on the other hand, the diagnostic possibilities offered by next-generation sequencing remains to be established. The aim of this review is to give a comprehensive up-to-date overview of the muscle imaging findings that have recently been described in different genetic congenital myopathies. This enables the reader to both quickly browse the information and to look up more detailed findings. In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. Tavazzi Chapter 15 Congenital myopathies Chapter 16 CongenitaI muscular dystrophies S.
Badrising Chapter 27 Toxic and drug-induced myopathies S. Muscle imaging demonstrates characteristic patterns, which can be helpful for the differentiation of individual limb girdle muscular dystrophies. . This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging--including aspects of neuroimaging and musculoskeletal imaging--in patients with inherited, metabolic, and inflammatory muscle diseases. Mura Chapter 19 Limb girdle muscular dystrophies M. Coindre Part Five: Clinical applications in motor neuron disorders and peripheral nerve imaging Chapter 29 Motoneuron diseases S. Fischer Chapter 20 Myofibrillar myopathies M.
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle. Carlier Chapter 30 Clinical applications of periperal nerve imaging A. The detection of these patterns has widened the differential diagnosis of inherited muscle diseases even leading to the discovery of new disease entities in combination with genetic testing. The diagnostic algorithms based on pattern recognition of muscle involvement are described in detail. Wattjes Part Three: Clinical applications in hereditary myopathies Chapter 12 Introduction D. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagsis. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis.
The E-mail message field is required. Although muscle biopsy is still the gold standard for the establishment of the definitive diagnosis, muscular imaging is an important diagnostic tool for the detection and quantification of dystrophic changes during the clinical workup of patients with hereditary muscle diseases. While imaging of peripheral nerve and muscle is routinely performed in patients with suspected neuromuscular tumors, it is most likely underused in neuromuscular disorders such as hereditary myopathies, peripheral nerve disorder, and motor neuron disorder. Wattjes Excludes: Russian Federation, Albania, Austria, Belgium, Bosnia and Herzegovina, Bulgaria, Croatia, Republic of, Cyprus, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Malta, Monaco, Netherlands, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, Ukraine, United Kingdom, Costa Rica, Dominican Republic, El Salvador, Haiti, Honduras, Philippines, Vietnam, Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Peru, Suriname, Uruguay, Venezuela, Canada, Mexico, Egypt, Eritrea, Libya, Nigeria, Somalia, Iraq, Israel, Saudi Arabia, Turkey, Yemen, China, Georgia, India, Pakistan. The semimembranosus mostly showed more alterations than the adductor magnus sensitivity 88%, specificity 96%. Straub Chapter 18 Emerinopathies and Laminopathies N. Tavazzi Chapter 15 Congenital myopathies Chapter 16 CongenitaI muscular dystrophies S.
World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. In neurogenic disorders too, the imaging toolbox is expanding and provides us with non-invasive ways of identifying nerve damage. Copyright © 2015 The Authors. The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases. Stenzel Chapter 10 Atlas of topographical muscle anatomy A. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Fischmann Chapter 25 Diagnostic algorithms and differential diagnosis R.
As whole-body muscle imaging data are not yet available for most hereditary myopathies, we have used data dealing with imaging findings in the thighs and lower legs. Ganzkörperuntersuchungen Bildakquisition erlaubt, bleibt die Standardisierung eine große Herausforderung. Kley Chapter 21 Distal myopathies B. Part One: Imaging modalities Chapter 1 Introduction M. In the lower limbs, all the patients showed a consistent involvement of the flexor hallucis longus, which is very rarely affected in other muscle diseases, and a diffuse involvement of thigh and posterior leg with sparing of gracilis, tibialis anterior and, to a lesser extent, short head of biceps femoris. Wattjes Chapter 7 Peripheral Nerve Imaging A.
Recent work has demonstrated the usefulness of muscle imaging for the detection of specific congenital myopathies, mainly for the identification of the underlying genetic defect in core and centronuclear myopathies. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. The following chapters deal with the clinical applications of imaging in hereditary and acquired myopathies, neuropathies, and motor neuron disorders. New imaging possibilities for diagnosis and monitoring have, however, been developed and fine-tuned in recent years. In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus sensitivity 90%, specificity 93%. Kley Chapter 28 Muscle neoplasm M.