What is Niemann-Pick syndrome?
Niemann-Pick is a rare, inherited disease that affects the body’s ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
What causes Niemann-Pick disease type C?
Niemann-Pick disease type C is caused by a mutation in either the NPC1 or NPC2 genes, which provide instructions for the production of special proteins in lysosomes that are responsible for the movement of cholesterol and other fats.
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.
Is Niemann-Pick disease rare?
Frequency. Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population.
How is Niemann-Pick disease Prevented?
There is no known cure for Niemann-Pick disease and no way to prevent it because it is entirely hereditary. However, early diagnosis and proper treatment may improve life expectancy for some people with type B or C. Autosomal recessive inheritance. (n.d.).
How is Niemann-Pick diagnosed?
Ultrasound can detect the enlarged liver and spleen that’s caused by type C. And amniocentesis or chorionic villus sampling may be used to confirm a diagnosis of Niemann-Pick.
What is Niemann-Pick disease type B?
Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain.
How is Niemann-Pick disease diagnosed?
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.
What is C2 disease?
Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and …
What age does Pick’s disease start?
It can occur in people as young as 20. But it usually begins between ages 40 and 60. The average age at which it begins is 54.
How Can Pick’s disease be prevented?
How Do You Prevent Pick Disease? There is no known way to prevent Pick disease. Being alert for symptoms and signs may allow earlier diagnosis and treatment. Appropriate treatment can slow or relieve symptoms and behavior problems in some people.
What is another name for Pick’s disease?
Pick’s disease is a kind of dementia similar to Alzheimer’s but far less common. It affects parts of the brain that control emotions, behavior, personality, and language. It’s also a type of disorder known as frontotemporal dementia (FTD) or frontotemporal lobar degeneration (FTLD).
Who discovered Pick’s disease?
It was first described by Czech neurologist and psychiatrist Arnold Pick in 1892. In some older medical texts, Pick’s disease is used interchangeably with “frontotemporal dementia,” but in modern medicine, Pick’s disease is understood to be one of three very specific causes of frontotemporal dementia.