Topical Review Dystrophinopathies: Clarification and Complication

The purpose of this review is to analyze the clinical applications of a remarkable series of advances made in molecular genetics, primarily with regard to Becker muscular dystrophy. A new classification is required to clarify such syn-dromes as Duchenne and Becker muscular dystrophy. Dystrophinopathies can be seen in patients with early onset and a severe course (Duchenne muscular dystrophy), patients with later onset and milder weakness (Becker muscular dys-trophy), patients with myalgia and cramp syndrome, and patients with dilated cardiomyopathies. Dystrophin testing in muscle is the most sensitive test for identification of dystrophinopathy patients, although gene deletion studies can make the diagnosis in most cases. (J Child Neurol 1996;11:13-20). Over the last 10 years, the progress in the development of molecular genetic techniques and their application to the study of neuromuscular disease have been a complicated and difficult area of science for the clinician to follow. These advances have dramatically improved our diagnos-tic accuracy of X-linked recessive muscle diseases, and they have led to an evolution in the naming of dystrophies