Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
This book presents a comprehensive compendium of the state of knowledge about all aspects of FSHD as of approximately 2003…This book is an ideal resource for someone who wishes to have an in-depth understanding of FSHD. Katherine D. Matthews, The American Society of Human Genetics.
1. Introduction and Overview of FSHD. 2. Facioscapulohumeral Muscular Dystrophy: Historical Background and Literature Review. 3. Facioscapulohumeral Muscular Dystrophy: A Clinician's Experience. 4. Mapping of the FSHD Gene and the Discovery of the Pathognomonic Deletion. 5. Identification and Characterization of Candidate Genes in FSHD Region. 6. Evolution of Structural Organization of the Homeobox-Containing Repeat D4Z4. 7. Subtelomeric Exchange Between 4q and 10q Sequences. 8. Genomic Analysis of the Subtelomeric Regions of Human Chromosomes 10q and 4q: Relevance to FSHD. 9. The DUX Gene Family and FSHD. 10. Facioscapulohumeral Muscular Dystrophy (FSHD): A disorder of Muscle Gene Repression. 11. Genotype-Phenotype Relationships in FSHD. 12. Mosaicism and FSHD. 13. Retinal Vascular Abnormalities in FSHD: A Therapeutic Message; Clues to Pathogenesis. 14. Unusual Clinical Features Associated with FSHD. 15. Molecular Diagnosis of FSHD.16. FSHD Myoblasts: in vitro Studies. 17. Exploring Hypotheses about the Molecular Aetiology of FSHD: Loss of Heterochromatin Spreading and other Long-range Interaction models. 18. Histological, Immunological, Molecular and Ultrastructural Characteristics of FSHD Muscle. 19. Linkage Analysis in Non-Chromosome 4-Linked FSHD. 20. Facioscapulohumeral Muscular Dystrophy: Gender Differences and Genetic Counselling in a Complex Disorder. 21. Genetic Counseling for Facioscapulohumeral Muscular Dystrophy (FSHD). 22. Sarcolemmal Reorganization in FSHD. 23. Expression Profiling in FSHD. 24. Therapeutic Trials and Medical Management in FSHD.