Mitochondrial Diseases

Rita Horvath (et al.) | 2023 | ISBN: 0128217510 | English | 302 pages | PDF | 16 MB

Series: Handbook of Clinical Neurology, 194

Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling 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, all of which are covered within.

This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.

• Examines the pathophysiology of mitochondrial diseases and disorders • Focuses on neurological symptoms of mitochondrial diseases • Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more • Covers histology, metabolism, genetic, and neuroimaging diagnostics • Summarizes both available and emerging therapies • Includes clinical trials, the use of biomarkers and reproductive options

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