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How is a diagnosis of Niemann-Pick disease confirmed?
A diagnosis of Niemann-Pick disease is confirmed by analyzing a sample of tissue.
How many forms of Niemann-Pick disease exist?
At least five different forms of Niemann-Pick disease (NPD) have been identified.
What is the contact information for the National Niemann-Pick Foundation?
National Niemann-Pick Foundation. 3734 E. Olive Ave., Gilbert, AZ 85234. (602) 497-6638.
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.
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 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 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 does treatment of Niemann-Pick disease include?
Treatment consists of supportive care to deal with symptoms and the development of complications.
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.
What are the characteristics of Niemann Pick B disease?
NPD-B patients have an enlarged liver, no neurological involvement, and often survive into adulthood.
What is the treatment for Niemann Pick disease?
No specific definitive treatment is available for patients with any NPD type, and treatment is purely supportive
What are types C and D Niemann-Pick disease related to?
Types C or D NPD are related to cholesterol transfer out of cells.
