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.

21.1 Introduction

Genetic consultation will be requested when a person themselves, their partner, child or other relative is believed to be affected with FSHD. The first consideration is whether the diagnosis is correct, and if so, whether this has been confirmed at a molecular level. The molecular diagnosis of FSHD is discussed in Chapter 15.