This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Charcot Marie Tooth disease is one of the most common neurological disorders in the world, affecting about 1 in 2,500 people. For as common as this disease is, it unfortunately does not have a cure. In fact, it is only within the past decade or so that the most important discoveries related to this condition have been made. There is still a great deal to be learned about this disease and in regard to treatment options. If you or a loved one has Charcot Marie Tooth disease, the best thing you can do is arm yourself with as much knowledge about the disorder as possible. In this book you will receive a wealth of knowledge about this horrible condition including its history, signs and symptoms, causes, treatment options, and more. You will also receive valuable information about current research being conducted and background on other types of nervous disorders. While you may not be able to cure Charcot Marie Tooth disease, you can use this book as an educational tool to better understand it. Charcot Marie Tooth Disease diagnosis, symptoms, treatment, causes, doctors, nervous disorders, prognosis, research, history, surgery, and more!

For a woman of reproductive age, any medical appointment is a pre-conception visit and an opportunity to address pre-existing conditions that affect pregnancy and the maternal-fetal dyad. However, many neurologic conditions are rarely seen in pregnancy, and limited experience and knowledge may prevent the team from developing a shared approach to these complex conditions during pregnancy. Neurological Diseases and Pregnancy: A Coordinated Care Model for Best Management brings together experts across the disciplines of maternal fetal medicine, neurology, obstetrics, family planning, genetics, anesthesia, psychiatry, neurosurgery, and lactation to provide a multi-disciplinary, comprehensive, protocol-driven guide on best care for patients with neurologic disease before, during and after pregnancy. Each chapter provides a detailed care map on each unique disorder, and discusses the use of neurological medications during pregnancy and in lactation. Through this multi-disciplinary approach clinicians can navigate the complexities of preconception and pregnancy care, and help to optimize outcomes for the mother-infant dyad. Beyond pregnancy care, this volume further serves as a resource on best care for the life-course of women affected by neurologic disease including pre-pregnancy planning, genetic counseling, contraception, and sexuality in neurologic disease, as well as post-partum depression and menopausal neurologic changes.

A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. This volume provides recent advances in Drosophila models for various human diseases, with each chapter providing a review of studies involving Drosophila models, as well as detailed protocols commonly used in laboratories. Starting with a review of Drosophila’s value as a highly tractable model organism for studying human diseases, subsequent chapters present Drosophila models for specific human diseases. The book provides a useful resource for all scientists who are starting to use the Drosophila model in their studies, and for researchers working in the pharmaceutical industry and using new screening models to develop new medicines for various diseases.

Disorders of the peripheral nervous system (PNS) are the cause of prominent neurological symptoms including weakness, sensory loss, pain and autonomic dysfunction associated with deficits, morbidity and mortality. These disorders may be primary hereditary or cryptogenic neurologic disorders confined to the PNS or part of the pathology of both the central nervous system and the PNS. Most PNS disorders are secondary to other system disorders and may be responsive to treatment of the primary disease. Important advances have been obtained in several areas including molecular genetics, biochemistry, immunology, morphology and physiology that have enhanced our understanding of the causes and consequences of damage to peripheral nerve. Understanding of both these groups of PNS diseases has greatly expanded over recent years and has led to important advances of treatment both to protect and to repair damages of peripheral nerve. This volume provides an overview of the state-of-the-art of examination, diagnosis and treatment of these very diverse disorders and will be of interest to both the research and clinical neuroscience and neurology communities. Covers both hereditary and cryptogenic neurologic disorders Includes advances in the basic science of PNS from molecular genetics, biochemistry, immunology, morphology and physiology Detailed coverage of neuropathy in connective tissue disorders, infectious disorders, metabolic disorders and malignancy

There are over 600 neuromuscular disorders and the variability of these syndromes can leave clinicians feeling as if they are lost in a maze as they seek to diagnose and manage patients. This book addresses this problem by using the case-history and symptom manifestation as a starting point for the diagnostic process in adult patients, mimicking the situation in the consultation room. For each case, diagnostic tools, disease pathogenesis, prognosis and treatment options are discussed, along with rare manifestations and differential diagnoses. Symptoms, signs and syndromes are cross-linked to help the reader navigate the variety of disorders. Accompanying tables give a broader picture of the manifestations of a particular disease within the landscape of neuromuscular disorders. This highly-illustrated book, with accompanying videos, will aid neurologists at all levels, internists, geneticists, rehabilitation physicians and researchers in the field, as they seek to familiarize themselves with this complex range of disorders.