Fortuitous detection of a sporadic carrier of Duchenne's muscular dystrophy
Tóm tắt
A case is presented of a 19-year-old white female, detected while we were investigating the range of serum creatine kinase levels in “normal” controls. She presented elevated serum creatine kinase, myopathic electromyogram, and electron microscopic evidence of dystrophic changes in muscle tissue, but no clinically detectable muscular weakness. The significance of these findings is discussed. We felt that she was probably a sporadic carrier of the gene for Duchenne's muscular dystrophy and, because there was no family history of neuromuscular disease, that this was the result of a spontaneous mutation.
Tài liệu tham khảo
Goto, I., H. A. Peters, and H. H. Reese: Creatine phosphokinase in neuromuscular disease: patients and families. Arch. Neurol. (Chic.) 16, 529 (1967).
Hanson, J. W., and H. Zellweger: The muscular dystrophies in Iowa. J. Iowa med. Soc. 58, 211 (1968).
Jackson, C. E.: Pers. comm. (1967).
—, and D. A. Strehler: Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 41, 495 (1968).
Kowalewski, S., H. W. Rotthauwe, E. Mölbert, and M. Mumenthaler: Female carriers of muscular dystrophy. Lancet 1966 I, 1216.
Milhorat, A. T., S. A. Shafiq, and L. Goldstone: Changes in muscle structure in dystrophic patients, carriers, and normal siblings seen by electron microscopy; correlation with levels of serum creatine phosphokinase (CPK). Ann. N.Y. Acad. Sci. 138, 246 (1966).
Okinaka, S., H. Sugita, H. Momoi, Y. Toyokura, T. Watanabe, F. Ebashi, and S. Ebashi: Cysteine-stimulated serum creatine kinase in health and disease. J. Lab. clin. Med. 64, 299 (1964).
Pearce, G. W., J. M. S. Pearce, and J. N. Walton: The Duchenne type muscular dystrophy: histopathological studies of the carrier state. Brain 89, 109 (1966).
Pearce, J. M. S., R. J. Pennington, and J. N. Walton: Serum enzyme studies in muscle disease. Part I: Variations in serum creatine kinase activity in normal individuals. J. Neurol. Neurosurg. Psychiat. 27, 1 (1964).
Richterich, R., S. Rosin, U. Aebi, and E. Rossi: Progressive muscular dystrophy. V. The identification of the carrier state in the Duchenne type by serum creatine kinase determination. Amer. J. hum. Genet. 15, 133 (1963).
Shaw, R. F., C. M. Pearson, and S. R. Chowdhury: Statistical characteristics and normal values of four serum enzymes, glutamic oxalacetic transaminase, glutamic pyruvic transaminase, aldolase, and creatine phosphokinase. Enzymol. biol. clin. 6, 10 (1966).
Van den Bosch, J.: Investigation of the carrier state in the Duchenne type of dystrophy. In Members of the Research Committee of the Muscular Dystrophy Group (Eds.), Research in Muscular Dystrophy, p. 23. Philadelphia: Lippincott 1963.
Vélez-García, E., P. Hardy, M. Dioso, and G. I. Perkoff: Cysteine-stimulated serum creatine phosphokinase: unexpected results. J. Lab. clin. Med. 68, 636 (1966).
Wilson, K. M., K. A. Evans, and C. O. Carter: Creatine kinase levels in women who carry genes for three types of muscular dystrophy. Brit. Med. J. 1965 I, 750.
Zellweger, H.: Congenital myopathies and their differential diagnosis. Päd. Fortbildungskurse 18, 105 (1966).
—, A. Afifi, W. F. McCormick, and W. Mergner: Benign congenital muscular dystrophy: a special form of congenital hypotonia. Clin. Pediat. 6, 655 (1967).
Zellweger, H., and J. W. Hanson: Serum enzymes in neuromuscular disease: creatine kinase in heterozygosity studies. Paper read at Second International Congress of Neuro-Genetics and Neuro-Ophthalmology, Montreal, 1967; to appear in Transactions of that Congress.