Niemann-Pick is inherited from your family and consists of a group of metabolic disorders in which lipids, fatty substances in your body, collect in the brain, spleen and liver cells. The diseases is triggered by the lack of an enzyme in lysosomes that is responsible for metabolizing the lipid called sphingomyelin.
There are 4 forms of the disease: Type A, Type B, Type C, and Type D. Sometimes they are referred to as type I (Types A and B) and type II (Types C and D). Different organs are affected, depending on what type of the disease the person suffers from. It can affect the respiratory system and the nervous system and each type presents different symptoms. Niemann-Picks disease is caused by a genetic mutation and can occur at any lifetime stage.
The symptoms of Niemann-Pick disease depend on the type of the disease. Some people only have a few symptoms and they are similar to the symptoms of other conditions.
Type A of Niemann-Pick disease tends to happen early on in the lifespan. Some of the signs of Type A are the loss of early motor skills that gets worse as time progresses, a cherry red spot on the eye, difficulties eating, and swelling of the abdominal area.
Type B symptoms do not usually occur until later in childhood and as late as the teen years. Younger children may still have abdominal swelling but the brain and nervous system are not usually involved. The symptoms are milder than Type A and can include respiratory infections that come back over and over again.
Type C of Niemann-Pick disease is most common in children that are school aged but it can also occur in early infancy and even in adulthood. The symptoms are an enlarged spleen and liver, jaundice (if infancy), seizures, difficulty moving limbs, and learning problems and intellectual decline. There can also be a loss of muscle tone and tremors and walking problems. Slurred speech and difficulty in moving the eyes up and down are also signs.
The symptoms of type D are very similar to those of type C.
The type of treatment that is recommended depends of the type of Niemann-Pick disease that you have. Unfortunately, there is not effective treatment at this time for type A and type D. Patients with type B have had good results with bone marrow transplants. Enzyme replacement and gene therapy are also being studied for treatment of type B. Miglustat is a medicine that is used to treat the symptoms of the nervous system that are common for type C. Other medicines may be prescribed to address other symptoms like seizures or loss of muscle tone.