Identifying disease subtypes in people with facioscapulohumeral muscular dystrophy

Takeaway

  • Facioscapulohumeral muscular dystrophy 1 and 2 (FSHD1 and FSHD2) form a disease continuum rather than existing as separate disease sub-types.

Why this matters

  • The current repeat unit criteria for FSHD1 and FSHD2 should be reevaluated to ensure people with FSHD are correctly diagnosed.