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NEUROLOGY 1987;37:1476
© 1987 American Academy of Neurology

Carrier assessment for mothers and sisters of isolated Duchenne dystrophy cases

The importance of serum enzyme determinations

C. L. Hyser, MD, R. A. Doherty, MD, R. C. Griggs, MD, J. R. Mendell, MD, R. Polakowska, PhD, S. Quirk, BS, M. H. Brooke, MD, G. M. Fenichel, MD and CIDD group

University of Rochester (Dn. Hyser, Doherty, Griggs, and Polakowska, and Mr. Quirk), Rochester, NY; Ohio State University (Dr. Mendell), Columbus, OH Washington University (Dr. Brooke), St. Louis, MO and Vanderbilt University (Dr. Fenichel), Nashville, TN.

DNA studies (restriction fragment length polymorphism linkage analysis and deletion analysis with pERT87) and serum creatine kinase/pyruvate kinase (CK/PK) measurements were done to determine the carrier status of 59 mothers and sisters of isolated Duchenne dystrophy (DD) cases. The results of DNA studies modified the carrier risks for 34 of the 59 (58%), but the derived risks often did not differ importantly from risks calculated by conventional methods. Elevated CK/PK provided strong evidence of the carrier state for 24 of the 59 (41%), and CK/PK frequently provided data unavailable through DNA studies. Serum enzyme determinations remain an important means of evaluating DD carrier suspects and are especially valuable in isolated-case families. Enzyme testing should be combined with DNA studies to achieve the best estimate of carrier risk.

Address correspondence and reprint requests to Dr. Hyser, Box 673, Department of Neurology, University of Rochester School of Medicine, Rochester, NY 14642.

*The Collaborative Investigation of Duchenne Dystrophy Group consists of Shree Pandya, MS, PT, and Richard T. Moxley III, MD, University of Rochester; Wendy M. King, LPT, Linda Signore, RN, Suzanne Holowinsky, MS, and Arthur Vaughn, MD, Ohio State University; Julaine M. Florence, MPH, PT, J. Philip Miller, Michael Province, PhD, Kenneth K. Kaiser, BS, and Martha McCrate, BS, Washington University; and Jenny Dively Robinson, BS, Vanderbilt University.

Supported in part by a grant from the Muscular Dystrophy Association and USPHS grant RR00044 from the Division of Research Resources of the NIH.

Presented in part at the thirty-eighth annual meeting of the American Academy of Neurology, New Orleans, LA, April 1986.

Received August 29, 1986. Accepted for publication in final form December 30, 1986.






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