Unacceptable delays

Article Outline

• Copyright

The past few years have witnessed significant growth in our understanding of Duchenne muscular dystrophy (DMD). With the identification of the gene involved in DMD, there is now the ability to make a precise genetic diagnosis and prenatal testing is available; exciting disease-modifying therapies are being attempted. These advances are moot, however, if the diagnosis is not made early enough to permit institution of therapy or in time to prenatally study a potentially affected sibling. Delay in diagnosis is particularly unfortunate because there is a cheap, widely available screening test, the creatine kinase (CK).

In this issue of The Journal, Ciafaloni et al used a population based registry of cases of muscular dystrophy to determine the points at which delays in diagnosis may occur. The bottom line of their study is that an average of 2 ½ years is between the onset of initial signs or symptoms of DMD and establishing the definitive diagnosis. Strikingly, this number has remained virtually the same for two decades. The authors make a plea for early consideration of DMD in boys with developmental delay, and broader use of the simple measure of CK in such cases.

The importance of these findings is nicely highlighted in an accompanying editorial by Kaufmann. This editorial provides a perspective for the primary care physician, with additional up-to-date information about DMD and its genetic basis.

Article page 380▸

Editorial page 309▸