Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis

Abstract excerpt

Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can guide quality improvement initiatives. Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons for diagnostic delays and diagnostic errors in schwannomatosis, a neurogenetic syndrome characterized by nerve sheath tumors and chronic pain. We reviewed the medical...

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