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NEUROLOGY 1993;43:345
© 1993 American Academy of Neurology

Extreme variability of expression in monozygotic twins with FSH muscular dystrophy

R. Tawil, MD, D. Storvick, MS, T. E. Feasby, MD, B. Weiffenbach, PhD and R. C. Griggs, MD

Neuromuscular Disease Center and the Gorell Molecular Biology Laboratory of the Department of Neurology (Dr. Tawil, D. Storvick. and Dr. Griggs), University of Rochester, School of Medicine and Dentistry, Rochester, NY; the Department of Clinical Neuroscience (Dr. Feasby), University of Calgary, Calgary. AB, Canada; and Collaborative Research, Inc. (Dr. Weiffenbach), Waltham, MA.

We describe monozygotic twins who are either discordant or show extreme variability in the expression of facioscapulohumeral muscular dystrophy (FSHD). One twin was severely incapacitated by FSHD. The asymptomatic twin demonstrated equivocal facial weakness on physical examination, but no difference on quantitative myometry when compared with normal controls. High-resolution cytogenetic analysis showed no chromosomal abnormalities. Five polymorphic 4q35 markers known to be linked to FSHD showed identical RFLP patterns, indicating that submicroscopic chromosomal rearrangement is unlikely. We conclude that this set of twins represents an extreme case of variability in the expression of the FSHD gene.

Address correspondence and reprint requests to Dr. Rabi Tawil, Department of Neurology, University of Rochester, 601 Elmwood Avenue, Box 673, Rochester, NY 14642.

Supported in part by grants from the Muscular Dystrophy Association (Drs. Tawil and Weiffenbach), NY, and NIH grants NS22099 and MO1-RR004.

Received February 26. 1992. Accepted for publication in final form June 19, 1992.






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