Niemann-Pick Type C Disease Facts

   About the Disease:

• Niemann-Pick Type C (NP-C) disease is a genetic, neurodegenerative disorder which causes progressive deterioration of the nervous system.

• A person with NPC in unable to metabolize cholesterol and other lipids properly within the cell.

• The NPC1 gene on chromosome 18 is abnormally present with two copies in each cell of a person who is affected. Most cases of NPC are caused by mutations or changes in this gene.

• NPC is an autosomal recessive inherited disease. Each parent is a carrier and contributes a non-functioning NCP gene to the child. The parents show no signs or symptoms of the disease. The parents could also have children who are carriers, who are affected with the disease or who are not carriers.

     Symptoms:

• Prenatal and early childhood development may be normal, although jaundice may appear at birth. Liver and/or spleen enlargement may be noted in early childhood.

• It usually affects children by interfering with their ability to metabolize cholesterol. 

• Large amounts of cholesterol accumulate within the liver, spleen, and brain. This metabolic disorder leads to a series of neurological problems.

• Vertical gaze palsy, inability to move the eyes up and down, is an early symptom.

• Other symptoms may include: clumsiness, loss of muscle strength, abnormal posturing of the arms and legs. As the disease progresses complications with lungs, seizures, swallowing and speech may occur.

• NP-C is ultimately fatal, with death from the complications of the disease usually occurring in the teenage years.

• Generally, the later the symptoms are recognized the slower the progression of the disease.