FSHD
FSHD, or facioscapulohumeral muscular dystrophy, is the most common inherited muscular dystrophy of adulthood. It comprises two genetic forms, FSHD1 and FSHD2, both marked by progressive weakness of facial and shoulder girdle muscles with variable involvement of other muscle groups.
FSHD1 is caused by contraction of a repeated 4q35 D4Z4 segment on the chromosome to 1–10 units
Clinical features typically begin in adolescence or early adulthood but can appear later. Early signs include
Diagnosis relies on clinical assessment supported by genetic testing. Testing differentiates FSHD1 (D4Z4 contraction with a
Management is supportive; there is no cure. Multidisciplinary care includes physical and occupational therapy to maintain