| Niemann-Pick disease Types C and D may appear | | | | Deficiency of acid sphingomyelinase. |
| early in life or develop in the teen or adult years. | | | | Lysosomal accumulation of sphingomyelin. |
| Niemann-Pick. Incidence of Niemann-Pick disease, | | | | Cellular cholesterol. |
| type C is estimated to be 1 in 150,000 people. | | | | Signs and Symptoms of Niemann Pick Disease |
| Type C occurs when the body can not properly | | | | Common Sign and Symptoms of Niemann Pick |
| break down cholesterol and other lipids (fats). This | | | | Disease |
| leads to too much cholesterol in the liver and | | | | Lack of muscle coordination. |
| spleen and excessive amounts of other lipids in | | | | Brain degeneration. |
| the brain. There may be reduced ASM activity in | | | | Learning problems. |
| some cells. Type C Niemann-Pick disease has | | | | Loss of muscle tone. |
| been reported in all ethnic groups but it is most | | | | Increased sensitivity to touch. |
| common among Puerto Ricans of Spanish | | | | Spasticity. |
| descent. Other signs include severe liver disease, | | | | Feeding and swallowing difficulties. |
| breathing difficulties, developmental delay, seizures, | | | | Slurred speech. |
| increased muscle tone ( dystonia ), lack of | | | | Enlarged liver and spleen. |
| coordination, problems with feeding, and an inability | | | | Treatment of Niemann Pick Disease |
| to move the eyes vertically. People with this | | | | Common Treatment of Niemann Pick Disease |
| disorder can survive into adulthood. Patients with | | | | Bone marrow transplantation has been performed |
| NPD type A have progressive neurodegeneration, | | | | on a few patients with Type B with encouraging |
| and attainment of milestones does not progress | | | | results. |
| beyond 10 months in any domain. Motor milestone | | | | Others possible treatments including is enzyme |
| attainment rarely progresses beyond the ability to | | | | replacement therapy and gene therapy. |
| sit with assistance. Progression with loss of | | | | A healthy, low-cholesterol diet is recommended. |
| previously achieved milestones ensues, and | | | | Medicines are available to control or relieve many |
| patients appear weak and hypotonic. Bone | | | | symptoms, such as cataplexy and seizures. |
| marrow transplantation has been performed on a | | | | Orthotopic liver transplantation in an infant with |
| few patients with Type B with encouraging | | | | type A disease and amniotic cell transplantation in |
| results. Possible treatments including is enzyme | | | | several patients with type B disease have been |
| replacement therapy and gene therapy. | | | | attempted with little or no success. |
| Causes of Niemann Pick Disease | | | | Lung transplantation has not been performed in |
| Common causes and Risk factors of Niemann | | | | any patient with type B disease who was |
| Pick Disease | | | | severely compromised. |