New tool for assessing Niemann-Pick type C disease symptoms

Written by Lauren Pulling

A global team of experts has launched a new Suspicion Index (SI) for Neimann-Pick type C disease (NP-C), a rare genetic condition that causes a toxic accumulation of lysosomal lipids, leading to progressive neurological and systemic symptoms.  The team hopes that the new system will improve identification of NP-C in patients, leading to more effective treatment. “Diagnosis of NP-C can be difficult as the symptoms are highly variable and not specific to the disease,” explained Christian Hendriksz, Manchester Academic Health Science Centre (MAHSC), Salford Royal NHS Foundation Trust (Manchester, UK). “It is therefore with great anticipation and clinical excitement that...

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