Article: PDF OnlyTHE MUSCULAR DYSTROPHIES UPDATE ON GENETICS AND APPROPRIATE TESTINGFlanigan, Kevin M. MD Author Information From the Departments of Neurology and Pathology and Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah. The Neurologist: May 1999 - Volume 5 - Issue 3 - p 113-121 Buy Abstract BACKGROUND Clinical classifications of muscular dystrophies have been based on the descriptive work which began with Duchenne. The description of the dystrophin gene and its product heralded the onset of the age of reverse genetics and allowed for improved diagnosis of diseases associated with abnormalities of dystrophin function, the dystrophinopathies (Duchenne and Becker muscular dystrophy). At the same time, advances in molecular genetics have helped to categorize other syndromes, some that clinically overlap with the dystrophinopathies and others that are distinct. REVIEW SUMMARY This review summarizes current genetic knowledge about the muscular dystrophies and outline diagnostic algorithms for efficient use of diagnostic testing. CONCLUSIONS The practicing neurologist can benefit by improved diagnosis of the dystrophies, but efficient use of new diagnostic tools requires an understanding of genetic advances in the characterization of these diseases. © 1999 Lippincott Williams & Wilkins, Inc.