Is Niemann-Pick Inherited?

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Been recently diagnosed with Niemann-Pick disease...

5 Answers

Yes, it is inborn (congenital).
Yes, Niemann-Pick disease is a rare, inherited disease that causes the body unable to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can have an impact on your nerves, brain, spleen, liver, bone marrow and, in severe cases, lungs. There are three types of this disease, type A and B, and Type C.
How do I know I have developed this disease?
Also eager to know the answers.
Niemann-Pick can occur at any age but mainly affects children. If some of the following symptoms are noticed, you’d better check it out with your doctor: having difficulty walking sleeping, swallowing and eating; having recurrent pneumonia; having excessive muscle contractions or eye movements.

To get yourself diagnosed, you need to take a thorough physical exam to check out if there is some early warning sign such as an enlarged liver or spleen.
Is there a cure for Niemann-Pick?
It’s a pity that there is no cure for it. To treat this disease, physical therapy is of great significance to maintain mobility. No effective treatment is available to people with type A or B. For those with mild to moderate type C, a drug called miglustat (Zavesca) may be an alternative.
What causes this disease?
It is believed that Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). This kind of gene mutations is passed from generations to generations in a pattern called autosomal recessive inheritance.
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