Rare Endocrinology News
5 Facts you should know about
Niemann-Pick disease type C
1
NPC manifests with a wide range of clinical symptoms, making diagnosis challenging
2
Approximately 95% of Niemann–Pick type C cases are caused by genetic mutations in the NPC1 gene
3
NPC disease primarily affects the nervous system, leading to symptoms such as ataxia, dystonia, and cognitive decline
4
It is also a systemic disorder, causing hepatosplenomegaly, lung and liver dysfunction, and other systemic manifestations
5
Recent research has highlighted the involvement of heat shock proteins (HSPs) in NPC
Rare Endocrinology News
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