Most health professionals would have studied DMD during their training because it has several features that make it an excellent teaching tool for students to understand genetic basis of disease. Because of this they may think that DMD is the most common form of muscular dystrophy, or even assume that the features of DMD are shared by all other dystrophies. Some people may also be unaware that there are actually other muscular dystrophies.
Of course, FSHD as well as other dystrophies are equally likely to affect males and females because the genetic defects do not sit on the X-chromosome.
‘You can’t have FSHD because you don’t have *common symptom*’
The term facioscapulohumeral dystrophy was introduced in a 1950s scientific paper where researchers had studied the typical pattern of inheritance and symptoms of this dystrophy in a large family.
This pattern of symptoms being facial, shoulder and upper limb weakness. However, even in this publication the highly variable way FSHD manifests was observed.
The symptoms used to clinically identify FSHD may be what is usually seen, however, they should not be used to rule people out of a diagnosis of FSHD.