Muscular Dystrophy: Causes and Management


Corrado Angelini, MD (Editor)
Dipartimento di Neuroscienze, Università di Padova, Padova, Italy

Series: Neurodegenerative Diseases – Laboratory and Clinical Research, Muscular System – Anatomy, Functions and Injuries
BISAC: MED056000

Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies after the molecular revolution. In the field of patient’ diagnosis, several advances have been made by recognizing new entities. New techniques, such as biochemical, molecular advancements and the use of muscle MRI are collected, allow rapid diagnosis. Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies, and some novel treatments in glycogen storage disease by enzyme replacement are proposed. Both rehabilitation techniques and other treatments deserve particular attention for the improvements observed. (Imprint: Nova Biomedical )

Table of Contents

Table of Contents


Section 1. Genetic, Environmental Interactions and Evaluation

Chapter 1. Muscular Dystrophy: The Present and the Future
(Alan E.H. Emery, Green Templeton College, University of Oxford, Oxford, UK)

Chapter 2. History and Pathogenesis of Muscular Dystrophy
(Corrado Angelini, Department of Neurosciences SNPSRR, University of Padova, IRCCS, San Camillo, Lido, Venice, Italy)

Chapter 3. Biomarkers and Genetic Risk
(Giuseppe Novelli, National Agency for the Evaluation of Universities and Research Institutes, ANVUR, Rome, Italy)

Chapter 4. Inflammation in Duchenne Muscular Dystrophy
(Werner Stenzel and Hans-Hilmar Goebel, Department of Neuropathology, Charité, Universitätsmedizin Berlin, Germany)

Chapter 5. MRI Imaging in Muscular Dystrophy
(Enrico Peterle and Corrado Angelini, Dept. of Neurosciences NPSRR, Padova, Italy)

Chapter 6. Clinical Scales for Evaluation of Neuromuscular Patients
(C. Semplicini and C. Angelini, Dept. of Neurosciences NPSRR, Padova, Italy, and others)

Section 2. Specific Dystrophies

Chapter 7. Dystrophinopathies
(Luca Bello, Eric P. Hoffman and Elena Pegoraro, Dept. of Neurosciences NPSRR, University of Padova, Italy, and others)
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Chapter 8. Scapulo-peroneal Syndromes
(Stanley Jones Iyadurai and Darine Kassar, Department of Neurology and Psychiatry, St. Louis University, St. Louis, MO, USA)

Chapter 9. Facio Scapulo Humeral Muscular Dystrophy
(Sabrina Sacconi, Centre de référence des Maladies Neuromusculaires
Hôpital Archet, Nice, France, and others)

Chapter 10. Limb Girdle Muscular Dystrophies
(Corrado Angelini and Marina Fanin, Dept. of Neurosciences NPSRR, Padova, Italy)

Chapter 11. Myotonic Dystrophy Type-1: Clinical Features
(Nicholas E. Johnson and Emma Ciafaloni, University of Rochester Medical Center, School of Medicine and Dentistry, Rochester, NY, USA)

Chapter 12. DM2: Clinical Features
(Benedikt Schoser, Friedrich-Baur-Institute, Department of Neurology Ludwig-Maximilians-University Munich, Munich, Gemany)

Chapter 13. Desminopathies
(Luis Vernengo, Luisa Carrasco, Alain Lilienbaum and María Mirta Rodríguez, Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Montevideo, Uruguay and others)

Chapter 14. Myofibrillar Myopathies
(Duygu Selcen and Andrew G. Engel, Mayo Clinic, MN, USA)

Chapter 15. Mitochondrial Myopathies and Ocular Myopathies
(T. Klopstock, Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München – Innenstadt, Germany)

Section 3. Distal Dystrophies

Chapter 16. Dysferlinopathies
(Luis Vernengo, Luisa Carrasco, María Mirta Rodríguez and Corrado Angelini, Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Montevideo, Uruguay and others)

Chapter 17. Anoctamine 5 Myopathies
(Anthony Behin and Bruno Eymard, Centre de Référence des Maladies Neuromusculaires Rares Paris-Est Bâtiment Babinski, Institut de Myologie GH Pitié-Salpêtrière, Paris, France)

Section 4. Treatment and Therapy

Chapter 18. Health Support: Health Promotion For Families with a DMD Child
(Jih-Yuan Chen, Ming-Hong Yen, Hong-Sen Chen, Yea-Ying Liu, Shu-Hui Hu, Meng-Chi Liu, Yin-Hui Lin and Yuh-Jyh Jong, School of Nursing, College of Nursing, Kaohsiung Medical University, China and others)

Chapter 19. Psychosocial Stress and Coping Strategies of Parents with Duchenne Muscular Dystrophy Children during the Middle Stage
(Jih-Yuan Chen, Shun-Sheng Chen, Yuh-Jyh Jong, Yi-Hsin Yang and Yi-Jing Lue, School of Nursing, Kaohsiung Medical University, China and others)

Chapter 20. Rehabilitation in Muscular Dystrophy
(Julaine M. Florence, Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA)

Chapter 21. Cardiac Problems in DMD
(P. Melacini, Department of Cardiac, Thoracic and Vascular Sciences, University of Padova, Padova, Italy)

Chapter 22. Ventilatory Assistance
(Andrea Vianello, Alessandro Matarese and Luciana Paladini, Respiratory Pathophysiology and Intensive Care Unit
University – City Hospital of Padova, Padova, Italy)

Chapter 23. GSDII and ERT
(Pascal Laforet, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique, Hôpitaux de Paris, Paris, France)

Chapter 24. Drug Targeting of Muscle Proteolytic Systems to Treat Muscular Dystrophy
(Romeo Betto, Istituto di Neuroscienze del CNR Dipartimento di Scienze Biomediche, Università di Padova, Padova, Italy)

Chapter 25. Muscle and Bone in Muscular Dystrophy: Why Not?
(Anna Rufo, Fabrizio De Benedetti and Anna Teti, Department of Experimental Medicine, University of L’Aquila, L’Aquila, Italy, and others)

Chapter 26. Treatment with Steroids of DMD
(Alberto L. Dubrovsky and Corrado Angelini, Universidad de Bs As Jefe del Departamento de Neurologia y Unidad de Enfermedades Neuromusculares, Instituto de Neurociencias Fundacion Favaloro,
Buenos Aires, Argentina, and others)

Chapter 27. The Emerging Biology of Muscle Stem Cells and their Therapeutic Strategies in Muscular Dystrophy
(Yan Wei, Andreas M. Kaufmann and Andreas E. Albers, Department of Otolaryngology, Head and Neck Surgery Charité-Universitätsmedizin Berlin, Berlin, Germany, and others)


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