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Author: Charlotte J Sumner
Publisher: Academic Press
ISBN: 0128036869
Category : Medical
Languages : en
Pages : 508
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Book Description
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
Author: Charlotte J Sumner
Publisher: Academic Press
ISBN: 0128036869
Category : Medical
Languages : en
Pages : 508
Get Book Here
Book Description
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
Author: Anthony Schapira
Publisher: John Wiley & Sons
ISBN: 0470672684
Category : Medical
Languages : en
Pages : 344
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Book Description
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
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
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.
Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392
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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.
Author: Kevan Chandler
Publisher: Worthy Books
ISBN: 1546014691
Category : Self-Help
Languages : en
Pages : 277
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Book Description
A story about friendships and commitment to one another so incredible you wouldn't believe it if it wasn't true. Kevan is just one of the guys. It's impossible to know him and not become a little more excited about life. He is an inspiring man permeated by joy, unafraid of sorrow, full of vitality and life! His sense of humor is infectious and so is his story. He grew up, he says, at "belt-buckle level" and stayed there until Kevan's beloved posse decided to leave his wheelchair at the Atlanta airport, board a plane for France, and have his friends carry him around Europe to accomplish their dream to see the world together! Kevan's beloved posse traveled to Paris, England, and Ireland where, in the climax of their adventure, they scale 600 feet up to the 1,400-year-old monastic fortress of Skellig Michael. In We Carry Kevan the reader sits with Kevan, one head-level above everyone else for the first time in his life and enjoys camaraderie unlike anything most people ever experience. Along the way they encounter the curiosity and beauty of strangers, the human family disarmed by grace, and the constant love of God so rich and beautiful in the company of good friends. We Carry Kevan displays the profound power of friendship and self-sacrifice.
Author: Shane Burcaw
Publisher: Roaring Brook Press
ISBN: 1250197880
Category : Juvenile Nonfiction
Languages : en
Pages : 40
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Book Description
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
Author: Trina Allen
Publisher:
ISBN: 9780595414642
Category : Motor neurons
Languages : en
Pages : 0
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Book Description
"November 3, 2003-April 27, 2004. Our love, our life, our angel. A day by day journey with SMA. Learn about SMA. See how life can change overnight. Feel the courage and strength. And much more"--Subtitles
Author: Jan Grue
Publisher: FSG Originals
ISBN: 0374600791
Category : Biography & Autobiography
Languages : en
Pages : 272
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Book Description
"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.
Author: Uday Kishore
Publisher: BoD – Books on Demand
ISBN: 9535110888
Category : Medical
Languages : en
Pages : 642
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Book Description
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.
Author: Victor Dubowitz
Publisher: Bailliere Tindall Limited
ISBN:
Category : Medical
Languages : en
Pages : 552
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Book Description
This reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories.
