Spinal Muscular Atrophy
Spinal Muscular Atrophy

Author: Charlotte J Sumner

Publisher: Academic Press

Published: 2016-10-24

Total Pages: 508

ISBN-13: 0128036869

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Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. - Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development - Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA - Includes outstanding questions and perspectives for future investigations and key references for additional detailed study

NORD Guide to Rare Disorders
NORD Guide to Rare Disorders

Author: National Organization for Rare Disorders

Publisher: Lippincott Williams & Wilkins

Published: 2003

Total Pages: 982

ISBN-13: 9780781730631

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NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Neurodegeneration
Neurodegeneration

Author: Anthony Schapira

Publisher: John Wiley & Sons

Published: 2017-04-24

Total Pages: 344

ISBN-13: 0470672684

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This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors

Genetic Neuromuscular Disorders
Genetic Neuromuscular Disorders

Author: Corrado Angelini

Publisher: Springer

Published: 2017-10-05

Total Pages: 392

ISBN-13: 3319564544

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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.

Cassidy and Allanson's Management of Genetic Syndromes
Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Not So Different
Not So Different

Author: Shane Burcaw

Publisher: Roaring Brook Press

Published: 2017-11-07

Total Pages: 40

ISBN-13: 1250197880

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Not So Different offers a humorous, relatable, and refreshingly honest glimpse into Shane Burcaw’s life. Shane tackles many of the mundane and quirky questions that he’s often asked about living with a disability, and shows readers that he’s just as approachable, friendly, and funny as anyone else. Shane Burcaw was born with a rare disease called spinal muscular atrophy, which hinders his muscles’ growth. As a result, his body hasn’t grown bigger and stronger as he’s gotten older—it’s gotten smaller and weaker instead. This hasn’t stopped him from doing the things he enjoys (like eating pizza and playing sports and video games) with the people he loves, but it does mean that he routinely relies on his friends and family for help with everything from brushing his teeth to rolling over in bed. A Chicago Public Library Best Book of 2017

Developmental Neuropathology
Developmental Neuropathology

Author: Reinhard L. Friede

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 591

ISBN-13: 3642736971

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I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.

I Live a Life Like Yours
I Live a Life Like Yours

Author: Jan Grue

Publisher: FSG Originals

Published: 2021-08-17

Total Pages: 272

ISBN-13: 0374600791

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"A quietly brilliant book that warms slowly in the hands." —Dwight Garner, The New York Times I am not talking about surviving. I am not talking about becoming human, but about how I came to realize that I had always already been human. I am writing about all that I wanted to have, and how I got it. I am writing about what it cost, and how I was able to afford it. Jan Grue was diagnosed with spinal muscular atrophy at the age of three. Shifting between specific periods of his life—his youth with his parents and sister in Norway; his years of study in Berkeley, St. Petersburg, and Amsterdam; and his current life as a professor, husband, and father—he intersperses these histories with elegant, astonishingly wise reflections on the world, social structures, disability, loss, relationships, and the body: in short, on what it means to be human. Along the way, Grue moves effortlessly between his own story and those of others, incorporating reflections on philosophy, film, art, and the work of writers from Joan Didion to Michael Foucault. He revives the cold, clinical language of his childhood, drawing from a stack of medical records that first forced the boy who thought of himself as “just Jan” to perceive that his body, and therefore his self, was defined by its defects. I Live a Life Like Yours is a love story. It is rich with loss, sorrow, and joy, and with the details of one life: a girlfriend pushing Grue through the airport and forgetting him next to the baggage claim; schoolmates forming a chain behind his wheelchair on the ice one winter day; his parents writing desperate letters in search of proper treatment for their son; his own young son climbing into his lap as he sits in his wheelchair, only to leap down and run away too quickly to catch. It is a story about accepting one’s own body and limitations, and learning to love life as it is while remaining open to hope and discovery.

Neurodegenerative Diseases
Neurodegenerative Diseases

Author: Uday Kishore

Publisher: BoD – Books on Demand

Published: 2013-05-15

Total Pages: 642

ISBN-13: 9535110888

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This book highlights the pathophysiological complexities of the mechanisms and factors that are likely to be involved in a range of neuroinflammatory and neurodegenerative diseases including Alzheimer's disease, other Dementia, Parkinson Diseases and Multiple Sclerosis. The spectrum of diverse factors involved in neurodegeneration, such as protein aggregation, oxidative stress, caspases and secretase, regulators, cholesterol, zinc, microglia, astrocytes, oligodendrocytes, etc, have been discussed in the context of disease progression. In addition, novel approaches to therapeutic interventions have also been presented. It is hoped that students, scientists and clinicians shall find this very informative book immensely useful and thought-provoking.

Searching For Every Step: Finding Purpose in Living With Spinal Muscular Atrophy
Searching For Every Step: Finding Purpose in Living With Spinal Muscular Atrophy

Author: Kurt E. Beach

Publisher: Beach Publishing LLC

Published: 2021-10-15

Total Pages: 208

ISBN-13: 9780578971971

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This inspiring memoir tells the story of a young man who is diagnosed with spinal muscular atrophy-a rare muscular disease-at a young age. In Searching for Every Step, author Kurt Beach offers his insight on the steps he took to find his true purpose in life. In his memoir, Beach recalls the steps and missteps he took in order to manage his bout with SMA and how this rare condition played a part in many decisions he made throughout his life. Despite his rare circumstances, his struggles are struggles we all face. Through his condition, he finds the courage and strength to overcome physical, emotional, and social obstacles concerning his career aspirations, schooling, romantic relationships, and even adoption. During a life changing event, Beach finds what he is missing in life. This experience not only shows him what kind of strength he has but what his true purpose in life is. Searching for Every Step delivers wisdom and inspiration to anyone who has struggled through life and gives them the inspiration to shift their focus away from their troubles and toward a more positive, faith-driven life