Book Details
Orange Code:95203
Paperback:442 pages
Publications:
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Sections:
1. Treatable Metabolic Movement Disorders: The Top 102. The Importance of Movement Disorders in Inborn Errors of Metabolism3. The Importance of Inborn Errors of Metabolism for Movement Disorders4. Imaging in Metabolic Movement Disorders5. Biochemical Testing for Metabolic Movement Disorders6. Genetic Testing for Metabolic Movement Disorders7. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Ataxia8. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia9. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism10. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Spasticity11. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus12. Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic Acidurias, and Urea Cycle Disorders with Movement Disorders13. Disorders of Energy Metabolism: GLUT1 Deficiency Syndrome and Movement Disorders14. Lysosomal Storage Disorders: Niemann–Pick Disease Type C and Movement Disorders15. Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders16. Syndromes of Neurodegeneration with Brain Iron Accumulation17. Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders18. Metal Storage Disorders: Primary Familial Brain Calcification and Movement Disorders19. Disorders of Glycosylation and Movement Disorders20. Disorders of Post-Translational Modifications/ Degradation: Autophagy and Movement Disorders21. Neurotransmitter Disorders: Disorders of Dopamine Metabolism and Movement Disorders22. Neurotransmitter Disorders: DNAJC12- Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder23. Neurotransmitter Disorders: Disorders of GABA Metabolism and Movement Disorders24. Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders25. Vitamin-Responsive Disorders: Biotin– Thiamine-Responsive Basal Ganglia Disease and Movement Disorders26. Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders27. Purine Metabolism Defects: The Movement Disorder of Lesch–Nyhan Disease28. Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders29. Hereditary Spastic Paraplegia-Related Inborn Errors of Metabolism30. Metabolic Movement Disorders in the Era of Next-Generation Sequencing31. Deep Brain Stimulation for Metabolic Movement Disorders32. Novel Therapeutic Approaches to Metabolic Movement Disorders
Description:
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Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective.
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