Question 1

how do you know if a carrier of niemann-pick disease?

Accepted Answer

Genetic testing: There are genetic tests that are available.  If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant.  In a male, you can get tested.  The testing is not standard because it is rare condition.  Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder.

Question 2

what are the common symptoms of niemann-pick disease?

Accepted Answer

N-P Disease SYmptoms: Symptoms are related to the organs in which they accumulate. Just a few examples are enlargement of the liver and spleen, unsteady gait, slurring of speech and discoordinated swallowing. Bone marrow cavities may be enlarged and the cortical bone may be thinned. Reduced appetite, abdominal distension and pain as well as thrombocytopenia secondary to splenomegaly.

Question 3

what kind of life does the person with niemann-pick disease have?

Accepted Answer

Neurological issues: Niemann-pick disease is a lysosomal storage disorder wherein the patient cannot degrade sphingomyelin-one of the major lipids of the nervous system. Thus there is build-up in all the cells of the body but most profoundly affecting the nervous system. It affects the cerebellum that leads to balance problems and speech problems. It can also affect the cortex-leading to seizures and cognitive issues.

Question 4

are there treatments for niemann pick disease?

Accepted Answer

Clinical trials: Niemann pick is a progressive disease due to metabolic abnormality that leads to the improper degradation of lipids and build-up in the lysosomes. There are different forms. In general, there is no cure at this time. There are clinical trials with medications and bone marrow transplants that have some promise. Nih has some labs directed at basic and clinical research for niemann pick.

Question 5

what is the treatment for niemann-pick disease?

Accepted Answer

N-P Disease: Treatments for niemann–pick disease are limited with care being mostly supportive. Anecdotally, organ transplant has been attempted with limited success. Future prospects include enzyme replacement and gene therapy. Bone marrow transplant has been attempted for type b. Supportive care through nutrition, medication, physical therapy and being followed by specialists can help with quality of life.

Question 6

what happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

Accepted Answer

Your genotype:  depends on whether you are a carrier of Niemann-Pick Type A, B, C 1, C2, D, E or the rare F. Your OB-GYN will refer you for pre-pregnancy genetic counselling. Gather all  medical history possible about your affected family members - onset &amp;   clinical presentation of symptoms, clinical course &amp; lifespan. Your insurance will cover molecular genetic testing if you have a documented family history.

Question 7

what change to the genetic code causes the niemann-pick disease?

Accepted Answer

Niemann Pick Disease: is a group of metabolic disorders with autosomal recessive inheritance. Each child of 2 carriers has a 25% chance of inheriting the defective gene from both parents &amp; having the disease. Mutations of  the SMPD1 gene on Chromosome 11p.15.4 cause Types A  &amp; B.  Mutations of the NPC1 gene on Chr. 18q11.2 cause types C1 &amp; D. A mutant NPC2 gene on Chr. 14q24.3, causes Type C2. See nnpdf.org. for more.

Question 8

what is the definition or description of: niemann pick disease?

Accepted Answer

Niemann Pick disease: Niemann Pick disease is a group of metabolic disorders that are caused by genetic mutations.  The disorder is in  the lysosomal storage system.  Sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC).

Question 9

can you tell me how to know if you are a carrier of niemann-pick disease?

Accepted Answer

See a geneticist: Niemannn-pick disease is autosomal recessive. Thus, both parents would have to be carriers for the child to manifest the disease. Niemann-pick is divided into types a, b, c, d. For types a and b there are dna tests that may be done to detect if one is a carrier. If this is something you are concerned about, a physician that specializes in genetics may be able to direct you to the exact test.

Question 10

what is niemann-pick disease like?

Accepted Answer

N-P Disease: Niemann–pick disease refers to a group of fatal inherited metabolic disorders. This disease is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases (lsds).

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What is the treatment for niemann-pick disease?

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What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

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What change to the genetic code causes the niemann-pick disease?

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What is the definition or description of: niemann pick disease?

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What is niemann-pick disease like?

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