There are only 500 diagnosed cases of Niemann-Pick Type C (NP-C) in the world. NP-C is a genetic, cholesterol storage disorder and about 50% of cases occur in children before 10 years of age with death occurring before or during adolescence. You may also know of NP-C as childhood Alzheimer’s.
95% of NPC cases are caused by genetic mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene, referred to as type C2.
NP-C is known as a autosomal recessive inherited condition meaning each parent of an affected child has one functional NPC1 gene, plus one non-functional NPC1 (or more rarely, NPC2) gene.
NP-C has a wide clinical spectrum in the classic from the following symptoms may be seen in childhood:
- Spleen or liver enlargement
- Difficulties with speech (such as slurring)
- Problems with swallowing
- Sudden loss of muscle strength
- Abnormal posturing of the limbs
- Lung complications
Death from complications of the disease usually occurs in the teenage years or early adulthood.
There is not yet a known cure for Niemann-Pick Type C, nor is there a specific treatment for NP-C. Supportive therapies are available and include medications and physical, speech and occupational therapy.
How Can I help?
To help find a cure and support treatment efforts you can participate in local events and or donate online to the Ara Parseghian Medical Research Foundation.
To learn more about Niemann-Pick Type C, we suggest the following online resources:
- The Ara Parseghian Medical Research Foundation
- The National Niemann-Pick Disease Foundation
- Wikipedia- Niemann-Pick disease, type C
Click here to learn more about Ashton Friedl, a very sweet nine-year-old girl living in Mechanicsville, VA who has been diagnosed with this disease.