Facioscapulohumeral dystrophy and scapuloperoneal syndromes

Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy. It is named for its characteristic involvement of the muscles of the face and upper arm. It is present worldwide, with a prevalence of around 4 per 100000 and an incidence of about 1 in 20000. Overall lifespan is not affected significantly. The scapuloperoneal syndrome is a rarer presentation that may cause some confusion. FSHD is an autosomal dominant condition. The molecular genetics of FSHD are complex, with current understanding focusing on epigenetic effects related to contraction-dependent (FSHD1) and contraction-independent (FSHD2) effects of a hypomethylated repeat sequence (D4Z4), in the presence of a specific 4qA161 phenotype. Molecular genetic diagnosis is available based on these findings, but with some complexities which may lead to false-negative results on routine laboratory investigation. No medication has been demonstrated to alter the clinical course of the disease significantly. A range of supportive measures may be applied. This chapter reviews the epidemiology, pathogenesis, genetics, clinical features, investigation, prognosis, and management of patients with FSHD and the scapuloperoneal syndrome.