Are Blood Vessels Involved in FSHD?

A research group that included Charles Thornton and Rabi Tawil, MDA clinic co-directors at the University of Rochester (N.Y.) Medical Center, have found evidence that blood vessel abnormalities may be involved in facioscapulohumeral muscular dystrophy (FSHD).

When they analyzed gene activity in people with FSHD, myotonic dystrophy (MMD) and no muscular dystrophy, they found that 44 genes were specifically overactive (upregulated) in early FSHD, and that 11 of these (32 percent) had a role in blood vessel structure or function.

These findings may help explain why retinal blood vessel abnormalities sometimes are part of FSHD. The researchers, who published their findings in the Feb. 20 issue of Neurology, as well as online in December, speculate that blood flow irregularities inside muscle fibers could also be a contributing factor in FSHD.