Mitochondrial Diseases (Volume 194) (Handbook of Clinical Neurology, Volume 194) (Original PDF from Publisher)

Mitochondrial Diseases: Clinical Manifestations, Diagnosis, and Management

By Rita Horvath, Michio Hirano, and Patrick F. Chinnery

Mitochondrial Diseases, Volume 194 presents a comprehensive overview of the clinical aspects of mitochondrial disorders, offering invaluable insights for neurologists in recognizing and managing these complex conditions.

Clinical Presentations and Diagnostic Strategies

The book delves into the diverse clinical manifestations of mitochondrial diseases, providing detailed descriptions of symptoms, signs, and disease progression. It covers the diagnostic process, including specialist biochemical analyses and targeted molecular genetic testing. Additionally, it emphasizes the importance of first-line genome-wide sequencing to expedite diagnosis, eliminating the need for invasive and costly investigations.

Genetic Counseling and Reproductive Options

Establishing a precise genetic diagnosis is crucial for patients with mitochondrial diseases. This book provides comprehensive guidance on genetic counseling, empowering patients and their families with information about inheritance patterns and reproductive options. It explores the various reproductive technologies available, including preimplantation genetic diagnosis and prenatal diagnosis, offering hope for families affected by mitochondrial disorders.

Essential for Neurologists

Mitochondrial Diseases, Volume 194 is an indispensable resource for neurologists. It offers a systematic approach to the diagnosis and management of these conditions, enabling healthcare providers to:

• Recognize the characteristic clinical manifestations of mitochondrial diseases
• Utilize the appropriate diagnostic tests to confirm a diagnosis
• Provide genetic counseling and reproductive options based on the latest evidence
• Implement evidence-based treatment strategies to improve patient outcomes

Up-to-Date and Comprehensive

This book synthesizes the latest research and clinical advances in mitochondrial diseases, providing neurologists with an up-to-date reference for their practice. It is written by renowned experts in the field, ensuring that readers receive the most current and authoritative information. Additionally, the book features:

• In-depth chapters covering all major types of mitochondrial diseases
• Detailed illustrations and tables for easy referencing
• Real-world case studies to illustrate clinical applications
• An extensive bibliography for further research

Mitochondrial Diseases, Volume 194 is an essential guide for neurologists seeking to enhance their understanding and management of these complex and challenging conditions. By integrating the latest scientific Erkenntnisse, diagnostic tools, and treatment strategies, this book empowers healthcare providers to provide optimal care for patients and their families.