Myotonic Dystrophy

2. Auflage 2009
ISBN: 978-0-19-957197-0
Verlag: OUP UK

Buch, Englisch, 120 Seiten, Print PDF, Format (B × H): 129 mm x 198 mm, Gewicht: 139 g

Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it.

When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct 'type 2 myotonic dystrophy', which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worldwide research.

New to this edition are 'Key Facts' at the beginning of each chapter, 'frequently asked question' boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.

Autoren/Hrsg.

Harper, Peter S.

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizin, Gesundheitswesen Medizin, Gesundheit: Sachbuch, Ratgeber
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Rheumatologie, Muskelerkrankungen

Inhaltsverzeichnis

- 1: What is Myotonic dystrophy?

- 2: Muscle symptoms and Myotonic dystrophy

- 3: Looking ahead

- 4: Not just a muscle disease

- 5: Children with Myotonic dystrophy

- 6: 'Type 2' Myotonic dystrophy

- 7: Family aspects and genetic risks

- 8: Advances in research

- 9: Support and information

- 10: Management and treatment now

- 11: The future-towards effective prevention and cure for Myotonic dystrophy

- 12: Conclusion

- Appendices

- Bibliography

- Index

Über Autor(innen)

Peter Harper is a University Research Professor in Human Genetics at Cardiff University, Wales. He is a member of the UK's Advisory Committee on Genetic Testing, and has a long-standing research interest in inherited neurological disorders, especially Huntington disease and Myotonic dystrophy.