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What is Niemann-Pick Type C?
Niemann Pick Type C is a lysosomal storage disease in which lipids collect in vital organs of the affected individual. Records have not been kept on the amount of people that have been affected, but it's believed that there are 500 cases in the world. At this time, there is no cure, but research is vital in providing home for families whose children are affected.
Niemann Pick Type C disease is very devastating. Most often parents will watch their children learn and grow only for it to slowly be taken away. Diagnosis can take several months to several years. Here are a few of the symptoms:
Seizures
Cataplexy
Ataxia
Slurred speech
Developmental delays
Supranuclear palsy
Abnormal posturing of limbs
Jaundice at birth
Difficulty walking
Loss of balance
Enlarged liver or spleen
If you or anyone you know have these symptoms, please consult a doctor.