GENETIC-DISORDERS THAT MASQUERADE AS MULTIPLE-SCLEROSIS

There are many genetic disorders that have signs and symptoms suggesti ve of multiple sclerosis and that may easily be overlooked in the eval uation of both adult and pediatric multiple sclerosis patients. The re cognition of a genetic disorder as the cause of a patient's ''multiple sclerosis'' phenotype has important implications not only for the pat ient, but often also for others in the patient's family who may be at risk for the same disease. We present here a review of single gene dis orders that can masquerade as multiple sclerosis. For each disorder, t he major clinical and biochemical characteristics are discussed, toget her with the appropriate testing to screen for and confirm the diagnos is. In addition, guidelines are presented for when to suspect an under lying genetic condition in a patient with a diagnosis of definite or p robable multiple sclerosis. The great variety of genetic disorders tha t can masquerade as multiple sclerosis and the many implications of a genetic diagnosis underscore the importance of recognizing genocopies of multiple sclerosis. (C) 1994 Wiley-Liss, Inc.