Abstract
The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 382 patients who had a complete evaluation, the UDN was able to establish the diagnosis in 132 (35%), many of which resulted in changes in management. 31 new syndromes were defined.
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