Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.Niemann-Pick disease types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). Type A occurs in all races and ethnicities. It is more common in the Ashkenazi (Eastern European) Jewish population. Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. Type C is most common among Puerto Ricans of Spanish descent. Type D involves a defect that interferes with how cholesterol moves between brain cells. It is a variant of type C. It causes Abdominal (belly area) swelling within 3 to 6 months, Seizures, Unsteady gait, clumsiness, walking problems, Difficulty moving limbs, Jaundice at birth.
Bone marrow transplants have been done on a few patients with type B with encouraging results. Researchers continue to study possible treatments, including enzyme replacement and gene therapy. There is no specific treatment for type D. A new medicine called miglustat is available for the nervous system symptoms of type C. A healthy, low-cholesterol diet is recommended. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. However, medicines are available to control or relieve many symptoms, such as sudden loss of muscle tone and seizures.A medication called miglustat is currently used to treat type C. Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Switzerland is 49 .Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.