Genetic Neuromuscular Disorders


Book Description

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: Diagnosis, Symptoms, Treatment, Causes, Doctors, Nervous Disorders, Prognosis, Research, History, Surgery, and More! F


Book Description

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!




Progressive Brain Disorders in Childhood


Book Description

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




Neurological Diseases and Pregnancy


Book Description

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.




Neuromuscular Disorders


Book Description

This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.




The Pediatric and Adolescent Hip


Book Description

This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.




Arlene on the Scene


Book Description

Arlene knows what it's like to be different. But in her quest to become the youngest student government officer in Greenwood Elementary history, she finally realizes the value in embracing differences.




Drosophila Models for Human Diseases


Book Description

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.




Sensory Neuropathies


Book Description

While motor neuropathies and neuronopathies and mixed sensory-motor neuropathies have been met with adequate interest by clinical and basic researchers and physicians, pure sensory neuropathies and neuronopathies have received comparably less attention, despite of the considerable morbidity they may cause in the individual patient. In this volume, a faculty of experienced authorities in the field gives an overview on the physiology, pharmacology, pathology, and clinical signs and symptoms of the sensory nervous system. In addition, specific aspects of morphometry, clinical testing, disease classification, experimental models, and metabolic, infectious and immune-mediated disorders including AIDS are addressed in more detail. The contributions of this volume represent a valuable reference for clinical, physiological, biochemical and pathomorphological studies on the sensory nervous system for which similarly comprehensive data are difficult to locate.




Living with CMT


Book Description

Welcome to the world of Charcot Marie Tooth (CMT) disease, a rare, progressive and hereditary neurological condition. Author Dawn Johnson takes readers through the physical challenges-the toll on the body, passing the disease on to her son, numerous surgeries, and ongoing treatments. She addresses the emotional toll as well, weighing in on the societal issues of bullying, lack of CMT awareness, giving back and paying it forward. Most of all, Dawn's spiritual journey is inspirational. As a wife, mother, daughter, co-worker and friend, she shares a raw and courageous view of coping, while trusting God's plan for her life.