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!

Provides a basic understanding of the diagnostic procedures and tools used by physicians, hospitals, and commercial laboratories. Each test entry includes a description of the test, patient preparation required, a description of the procedure itself, the reference range, what abnormal values may signify, and the approximate cost of the test.

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.

This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to charcot-marie-tooth disorder (also Charcot-Marie-Tooth Disease (Variant); Charcot-Marie-Tooth-Roussy-Levy Disease; Hereditary Areflexic Dystasia; Hereditary Motor and Sensory Neuropathy; Hereditary motor and sensory neu-ropathy; Hereditary Motor Sensory Neuropathy), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on charcot-marie-tooth disorder. Given patients' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

A compassionate and comprehensive guide for parents and others who care for children and teenagers with neuromuscular disorders. A large appendix offers resources state by state and country by country.