title: Genetic disorders that masquerade as multiple sclerosis.
abstract: There are many genetic disorders that have signs and symptoms suggestive of multiple sclerosis and that may easily be overlooked in the evaluation of both adult and pediatric multiple sclerosis patients. The recognition of a genetic disorder as the cause of a patient's "multiple sclerosis" phenotype has important implications not only for the patient, 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 disorders that can masquerade as multiple sclerosis. For each disorder, the major clinical and biochemical characteristics are discussed, together with the appropriate testing to screen for and confirm the diagnosis. In addition, guidelines are presented for when to suspect an underlying genetic condition in a patient with a diagnosis of definite or probable multiple sclerosis. The great variety of genetic disorders that can masquerade as multiple sclerosis and the many implications of a genetic diagnosis underscore the importance of recognizing genocopies of multiple sclerosis.
authors.affiliation: Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254.
authors.forename: M R
authors.initials: MR
authors.lastname: Natowicz
authors.forename: B
authors.initials: B
authors.lastname: Bejjani
mesh_terms: D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D009103:Multiple Sclerosis / Q000175:diagnosis*