Niemann-Pick disease simply put is fatal; Devastating for those families affected by all three types of the disease(A, B, C). Niemann-PickDisease.com will serve as a place that current and future people can come to find information and resources to point them in the right direction. Also serve as a place that families can come together on a common ground to associate with one another in an organized manner. Many times families have questions and/or concerns that by asking other families directly gives them some valuable insight.
*Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
This disorder is divided into four main types based on the genetic cause and the signs and symptoms. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. Children affected by this condition generally do not survive past early childhood.
Dr. Dan Ory of the University of Washington St. Louis speaking on Niemann-Pick Type C disease.
Niemann-Pick disease type C usually appears in childhood, although infant and adult onsets are possible. Signs of Niemann-Pick disease type C include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. Niemann-Pick disease type C is further subdivided into types C1 and C2, each caused by a different gene mutation.
*“Niemann Pick disease.” Genetics Home Reference. NIH, 01012008. Web. 5 Aug 2011. Link.
This website does not serve as a replacement on seeking professional medical advice. It does not intend to diagnose, treat, and/or cure. In the event that medical attention and/or advice is needed, please consult your local medical professional. In case of an emergency please dial 911 if your within the United States. This site is designed for informational purposes only.