To investigate whether two forms of the scapuloperoneal syndrome result from genetic defects allelic to facioscapulohumeral dystrophy (FSHD).
Two kindreds with scapuloperoneal syndromes underwent clinical, histologic, and electrophysiologic evaluation followed by genetic evaluation with probes closely linked to FSHD.
Although the proband in each kindred had facial, scapular stabilizer, and humeral weakness, raising the possibility of FSHD, evaluation of multiple other affected family members showed patterns of involvement that were clinically distinct from typical FSHD. In addition, DNA studies showed no linkage to the 4q35 FSHD locus in either kindred.
We conclude that these two forms of the scapuloperoneal syndrome are genetically distinct from FSHD.