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Name |
Niemann-Pick Disease |
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Related to/Also known as |
Juvenile dystonic lipidosis |
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Description |
Niemann-Pick (NP) is an inherited metabolic disorder, in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and, in some people, the brain. |
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Types |
There are 4 types - A, B, C and D. Type A, Infantile NP, has its onset in early infancy and results in early death. Type B, Juvenile Non-neuronoplathic NP, involves enlargement of the spleen and liver, which characteristically occurs in pre-teens years. Type C may occur in early life or teens, with enlargement of the spleen and liver, accompanied by progressive loss of speech, ataxia and other problems. Type D - similar to type C, but specifically found in people of Nova Scotia ancestry. |
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Useful National contacts |
Niemann-Pick Disease Group UK |
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Our resources |
The library at Neurosupport has a range of reference resources on this condition and on a wide range of disability related issues. |
