Range of presentations of a genetic muscular dystrophy in people with the same molecular signature

Takeaway

  • In people who are carriers of a D4Z4 reduced allele (DRA) with 7 to 8 repeat units, there is a wide range of clinical presentations from canonical facioscapulohumeral muscular dystrophy (FSHD), to atypical myopathy, to asymptomatic.

Why this matters

    Understanding of the phenotypic variation in the expression of a DRA with 7 to 8 repeat units could be useful for the clinical management of FSHD and for genetic counseling of people affected and their relatives.