Mitochondrial disorders are complicated and confusing, presenting with a variety of seemingly disconnected clinical features affecting multiple organ systems. Neurological symptoms are the most common clinical manifestations. This book is intended for neurologists to recognize and manage patients with mitochondrial diseases. It provides an up-to-date summary of the clinical presentations, diagnostic process, genetic counselling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive, and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, covered within. There is extensive coverage of both clinical diagnosis and treatment. Examines the pathophysiology of mitochondrial diseases and disorders Focuses on neurological symptoms of mitochondrial disease Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more Covers histology, metabolism, genetic, and neuroimaging diagnostics Summarizes both available and emerging therapies Includes clinical trials, use of biomarkers, and reproductive options INDICE: Section I. Introduction to Mitochondrial Diseases 1. Mitochondrial diseases in neurology Section II. Most Common Neurological Manifestations of Mitochondrial Disease 2. Chronic progressive external ophthalmoparesis and mitochondrial myopathy 3. Mitochondrial optic neuropathies 4. Leigh syndrome 5. Epilepsy in mitochondrial disease 6. Ataxia and spastic paraplegia in mitochondrial disease 7. Peripheral neuropathy in mitochondrial disease 8. Complex neurological and multisystem presentations in mitochondrial disease Section III. Diagnosing Mitochondrial Disease 9. Histology and biochemical investigations in mitochondrial disease 10. Genetics of mitochondrial diseases 11. Laboratory and metabolic investigations 12. Neuroimaging in mitochondrial disease Section IV. Therapy and Future Challenges 13. Currently available therapies in mitochondrial disease 14. Reproductive options in mitochondrial disease 15. Clinical trials in mitochondrial disease 16. Biomarkers in mitochondrial disease 17. Experimental therapies in mitochondrial disease
- ISBN: 978-0-12-821751-1
- Editorial: Elsevier
- Encuadernacion: Cartoné
- Páginas: 337
- Fecha Publicación: 01/03/2023
- Nº Volúmenes: 1
- Idioma: Inglés