FSHD is linked to alterations on the long arm of chromosome 4 near the tip (4q35)

It was not until 1952 that a formal definition of the clinical features of FSHD was developed. This was based on a large family (1249 individuals!) from Utah who were affected by FSHD. The study was the first to describe the inheritance and the term FSHD was coined. [...]

The same physicians publish a paper on FSHD which describes the familial pattern of the condition.

FSHD first described by French physicians Louis Landouzy and Joseph Dejerine.