Rare Medical News
5 Facts you should know about
Niemann-Pick disease type A
1
Type A is the most severe form.
2
It begins in early infancy and occurs most often in Jewish families.
3
Additional symptoms include weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age.
4
Children with this type rarely live beyond 18 months.
5
Mutations in the SMPD1 gene cause Niemann–Pick disease type A.
Rare Medical News