Niemann-Pick signs and symptoms may include:

• Clumsiness and difficulty walking
• Excessive muscle contractions (dystonia) or eye movements
• Sleep disturbances
• Difficulty swallowing and eating
• Recurrent pneumonia

The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood.

Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.

Niemann-Pick is a progressive disease, and there is no cure. It can occur at any age.

Types of Niemann-Pick

Types A and B

Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase. This affects the body's ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with primary brain disease. Most people affected with type B survive into adulthood.

Type C

Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.