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.
18.1 Introduction
The earliest histological descriptions of facioscapulohumeral muscular dystrophy (FSHD) precede its recognition as a separate clinical entity. Indeed it was the postmortem observations of Cruveilhiers in 1848 on a case of FSHD that were later interpreted by Duchenne in 1868, and were used by him to argue his case for the nosological separation of muscular dystrophy from the spinal muscular atrophies (Cruveilhiers, 1852; Duchenne, 1868). The terminology in this period can be confusing to the modern reader, so it is well to remember that ‘d’atrophie progressive de l’enfance refers to FSHD and that ‘l’atrophie musculaire progressive, de l’adulte, type Aran-Duchenne’ is not Duchenne muscular dystrophy but spinal muscular atrophy (SMA). Landouzy and Déjérine in a well-argued paper (1884) described the postmortem features in a case of d’atrophie progressive de l’enfance in a young man who had died from tuberculosis. The postmortem clearly demonstrated primary muscle disease-‘au microscope…l’existence d’une atrophie simple des faisceaux primitifs’ whilst the nerves of the face, the affected muscles and ‘les racines anterieures’ were ‘absolument normaux’. They emphasized the importance of distinguishing its myopathic nature from the neuropathic, ‘myélopathique’, nature of SMA. Since then, many authors have observed features that define a number of primary myopathies such as vacuolation and excess glycogen in the glycogenoses (Cardiff, 1966; Bartram et al., 1995; Wolfe et al., 2000), lipid accumulation in fatty acid oxidation defects (Angelini et al., 1981; Turnbull et al., 1987; Walton et al., 1994); αactinin containing rods in the nemaline myopathies (Yamaguchi et al., 1982; Walton et al., 1994; North et al., 1997) or ragged-red fibres in mitochondrial myopathies (Stadhoulders and Sengers, 1987; Hammans et al., 1993).
