Niemann-Pick Type C Clinical Description

The clinical presentation of this disease is extremely heterogeneous (varied) with an age of onset ranging from prior to birth until well into adult age.  Similarly, the lifespan of the patients varies between a few days (a small subset who die from hepatic or respiratory failure) until over 60 years of age (a few exceptional adult cases), although the majority of cases die between 10 and 25 years of age.  Systemic disease, when present, always precedes the neurological symptoms, but whilst there is no correlation between the age of onset of the systemic disease with the start of the neurological disease, there is a correlation between the age of onset of the neurological disease and the general further course of the disease and lifespan.

Source: Vanier Orphanet Journal of Rare Diseases 2010)
Source: Vanier Orphanet Journal of Rare Diseases 2010)