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What is the ultimate fate of those with Types C and D Niemann-Pick?
Ultimately, the nervous system becomes severely damaged and patients with Types C and D Niemann-Pick disease die.
How is a diagnosis of Niemann-Pick disease confirmed?
A diagnosis of Niemann-Pick disease is confirmed by analyzing a sample of tissue.
What are the different types of Niemann-Pick disease related to?
The different types seem to be related to the activity level of the enzyme sphingomyelinase.
How many forms of Niemann-Pick disease exist?
At least five different forms of Niemann-Pick disease (NPD) have been identified.
What are types C and D Niemann-Pick disease related to?
Types C or D NPD are related to cholesterol transfer out of cells.
What are the demographics for Niemann Pick A?
Both Niemann-Pick disease types A and B occur in many ethnic groups; however, they occur more frequently among individuals of Ashkenazi Jewish descent than in the general population.
What problem may exist in adults with Type E Niemann-Pick disease?
Some adults with Niemann-Pick disease (Type E) may also show a loss of muscle coordination.
What diets may be helpful for patients with Types C and D Niemann-Pick disease?
Low-cholesterol diets may be helpful for patients with Types C and D.
What occurs in patients with Types A and B Niemann-Pick disease?
In patients with Types A and B NPD, there is a build up of sphingomyelin in cells of the brain, liver, spleen, kidney and lung.
How is a diagnosis of Niemann-Pick disease confirmed in a pregnant women?
Prenatal diagnosis of Types A and B of NPD can be done with amniocentesis or chorionic villus sampling.
What is the genotype of a carrier for niemann-pick disease?
A carrier for Niemann-Pick disease typically has a heterozygous genotype, meaning they possess one normal allele and one mutated allele for the NPC1 or NPC2 gene, depending on the specific type of Niemann-Pick disease. This genotype can be represented as "N/n," where "N" denotes the normal allele and "n" the mutated allele. Carriers usually do not exhibit symptoms of the disease but can pass the mutated allele to their offspring.
What conditions result in children with Types C and D Niemann-Pick disease?
Children with Types C or D grow normally in early childhood, but eventually develop difficulty in walking and loss of muscle coordination.
