The report from Dr. Lemmer's group provides convincing genetic data for a plausible model of FSHD. The hypothesis that this muscle disease occurs on the basis of a toxic gain of function brought about by stabilized DUX4 transcript may turn out to be sound. Investigation of further FSHD kindreds by Dr. Lemmer's group and others will determine whether this pathogenic model will stand the test of time.
What do these findings mean for FSHD patients and the neurology community? Establishing an incontrovertible molecular mechanism for this common inherited muscle disease is the first step to devising therapies aimed at correcting or replacing the faulty genetic machinery that underlies FSHD.
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BENN E. SMITH, M.D., is an associate professor of neurology and the director of the sensory laboratory at the Mayo Clinic Arizona, Scottsdale.