Are smoking and alcohol disease-modifying factors in facioscapulohumeral muscular dystrophy?


  • Smoking and alcohol consumption did not influence the clinical severity of facioscapulohumeral muscular dystrophy (FSHD).

Why this matters

  • FSHD is an inherited disorder caused by aberrant expression of double homeobox 4 (DUX4) due to chromatin relaxation of the D4Z4 microsatellite repeat array, which leads to muscle weakness in the face, around the shoulder blades, and upper arms.

  • Disease severity and course is highly variable, and the potential effects of lifestyle factors on disease presentation have not been well studied.