Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush Medical College in Chicago, discusses the process of diagnosing Niemann-Pick Type C (NPC).
NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time.
In patients who are diagnosed beyond the perinatal period (>2 months), progressive psychiatric dysfunction and neurologic abnormalities may be observed. In younger patients (<15 years old), the earlier symptoms tend to be associated with visceral organ involvement.
Diagnosis may be delayed in patients with NPC, as numerous other disorders need to be considered. Genetic testing will generally yield the diagnosis.