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