What is Niemann-Pick disease type C?

What is Niemann-Pick disease type C?

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.

How common is Niemann-Pick Type C disease?

Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease.

How long can you live with Niemann-Pick type C?

Niemann-Pick type C is always fatal. However, life expectancy depends on when symptoms begin. If symptoms appear in infancy, your child isn’t likely to live past the age of 5. If symptoms appear after 5 years of age, your child is likely to live until about 20 years of age.

What is the history of Niemann-Pick disease?

Niemann-Pick Disease (NPD) includes a group of inherited diseases: Types A, B, and C. The name Niemann-Pick derives from two German pediatricians: Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927.

How is Niemann-Pick disease treated?

There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A.

Is Pick’s disease genetic?

The condition originally described by Pick (1892) and known as Pick’s disease is a rare form of presenile dementia. Familial occurrence or the presence of heredo- familial factors is mentioned in most textbooks, but evidence indicating hereditary transmission of the disease has been reported for only one family.

Is Pick’s disease hereditary?

Is Niemann-Pick disease curable?

Who is at risk for Niemann-Pick disease?

Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals.

How is Niemann-Pick disease diagnosed?

Using a blood or skin sample (biopsy), experts measure how much sphingomyelinase is in white blood cells to confirm the diagnosis….Other tests also may be done, such as:

  1. Magnetic resonance imaging (MRI). An MRI of the brain may show loss of brain cells.
  2. Eye exam.
  3. Genetic testing.
  4. Prenatal testing.

How is Niemann-Pick disease Prevented?

Niemann-Pick disease is a rare genetic condition that prevents the body from effectively breaking down fatty substances. These fats and lipids rapidly accumulate in bodily tissues, damaging vital organs. There is no known cure for Niemann-Pick disease and no way to prevent it because it is entirely hereditary.

How do you test for Pick’s disease?

How is Pick’s disease diagnosed?

  1. take a complete medical history.
  2. ask you to complete speech and writing tests.
  3. conduct interviews with your family members to learn about your behavior.
  4. conduct a physical examination and detailed neurologic examination.
  5. use MRI, CT, or PET scans to examine your brain tissue.

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