What is FSHD?

FSHD is a rare, hereditary form of muscular dystrophy caused by a genetic defect. The disease was first described in 1886 by two French doctors (Landouzy and Déjèrine) who found that patients suffered most from weakening and loss of muscles of the face (Facio), shoulders (Scapulo) and upper arms (Humeral).

FSHD has several characteristic symptoms. The major symptom of FSHD is the progressive weakening and loss of strength of the skeletal muscles. Early weaknesses of the eye muscles (open and close) and mouth (smile, whistle) are distinctive for FSHD. These symptoms, in combination with weaknesses in the muscles that stabilize the shoulder blades, are often the basis of the diagnosis.

Although the progression of FSHD is quite variable, it is usually relatively slow. The disease generally presents outward signs in 95% of affected individuals by the second decade of life for men, and the third decade of life for women. In about 5% of all cases young children are affected. Though FSHD is seen as a mild and benign disorder, more than 20% of patients end up using wheelchairs.

FSHD is the third most prevalent muscular dystrophy affecting men, women and children. It is worldwide in distribution and has an incidence of 1:20.000. In the Netherlands, around 900 people are affected by FSHD, worldwide this number is thought to be around 250.000. FSHD is an equal opportunity disease, meaning that anyone, regardless of age, gender, race of ethnicity, can inherit or develop it.