ABSTRACT
FSHD Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology, edited by Meena Upadhyaya and David N.Cooper. © 2004 Garland/BIOS Scientific Publishers Limited, Abingdon.
19.1 Introduction
Facioscapulohumeral muscular dystrophy is a disease of skeletal muscle, sparing both cardiac and smooth muscle tissues. Its effects include facial and shoulder girdle weakness initially, with progression to involve the pelvic girdle and extremities in the majority of cases. Facioscapulohumeral muscular dystrophy (FSHD) is usually inherited as an autosomal dominant disorder, although sporadic and recessive cases have been described. For nearly all cases of FSHD, the molecular basis of the disease can be identified as a deletion within the D4Z4 repeat at the end of the long arm of chromosome 4. However, in 5-10% of FSHD families, there is no linkage to 4q35. In the small group of families in whom there is no short 4q35 D4Z4 fragment, this type of FSHD is referred to as type 1B (FSHD1B; OMIM 158901) or non-chromosome 4-linked facioscapulohumeral muscular dystrophy.
