Contents


Preface

Ataxia or dystaxia is a disorder of the nervous system characterized by a lack of coordination of voluntary muscle movements and imbalance. It is normally associated with degeneration or blockage of specific areas of the cerebrum, cerebellum, and/or

Among all neurological diseases, ataxia stands out for its considerable variability of causes. There may be numerous etiologies for ataxias, and they may occur alone or simultaneously, acutely or chronically, and at any age in children, adults, and the elderly. As the pathophysiology of ataxias is as diverse as the various neurological and systemic diseases that affect the nervous system, the first step is to discover its underlying mechanism and rule out a detectable known genetic cause. Non-genetic ataxias are caused by acquired conditions, sporadic neurodegenerative disorders,

This book unravels the foundations and essential interventions of ataxia disorders, presenting introductory and pathophysiological aspects to give an overview of ataxia as well as contemporary and current evidence-based information on various scenarios, for example, when the disorder appears during early childhood, or even in adulthood and old age, in addition to presenting the authors' views and guidelines for interven-

The first section consists of an introductory chapter that gives an overview of ataxic disease that mainly affects adults. It discusses the main processes that cause ataxia, the most common signs and symptoms, what is involved in the ataxic patient, ataxia's variability, the main diagnostic tests used, and the treatment of ataxia in adults.

The second section focuses on several common scenarios in which the ataxic disorder will appear. Chapter 2 discusses genetic conditions like ataxia telangiectasia, which is an autosomal recessive disorder characterized by cerebellar degeneration, telangiectasias, immunodeficiency, cancer susceptibility, and radiation sensitivity. Ataxia telangiectasia is a complex disorder that usually first appears in early childhood when children begin to sit or walk. Although the disease is genetic, there are still many unresolved questions about its complexity and severity, for example, the influence of environmental factors, disease-modifying genes, epigenetics, severity, and progression of its various manifestations. Chapter 3 gives an overview of childhood-onset ataxia disorder. Childhood presentations of ataxia can often be difficult to diagnose. Recognizing ataxia is especially difficult in young children; the most frequent reason for consultation is gait instability and loss of balance. Clinical presentations tend to be heterogeneous and key considerations may vary based on age of onset, disease progression, and associated manifestations. New genetic diagnosis techniques have emerged, enabling the identification of specific pathologies. While there are currently limited treatable conditions, ongoing studies are proposing promising treatments for certain pathologies in the near future, thus increasing the importance of accurate

vestibular sensory connection pathways with the periphery.

or by unknown processes.

tions based on their own experiences.
