Question 1

what exactly is niemann pick disease?

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).

Question 2

what are the tests for niemann-pick disease?

Accepted Answer

N-P Disease: Enzymatic and/or genetic mutation analysis through blood work.

Question 3

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 4

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 5

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

Accepted Answer

Niemman-pick: Depending of the severity.  Depending on where the accumulation of sphingomyelin accumulation occur like liver, nervous system, bone, brain, etc.  Your symptoms will depend on the area affected and your lifestyle will depend on that.  Prognosis varies depending on severity.

Question 6

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 7

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 8

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 9

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 10

what are the major presenting symptoms of pick disease?

Accepted Answer

Symptoms of Pick Dis: Symptoms of pick disease are1difficulty in speech and thinking2 behaviour changes and impairment of social contacts3 passivity4 inertia 5 overactivity 6 pacing and wandering
changes in personality makes us differentiate between pick disease and alzeimer disease.

Get Virtual Care

For Businesses

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

Niemann pick disease drugs

A member asked:

What exactly is niemann pick disease?

A member asked:

What are the tests for niemann-pick disease?

A member asked:

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

A member asked:

What are the common symptoms of niemann-pick disease?

A member asked:

What type of life style does the person with niemann-pick disease have?

A member asked:

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

A member asked:

Are there treatments for niemann pick disease?

A member asked:

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

A member asked:

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

A member asked:

What are the major presenting symptoms of pick disease?

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

For Businesses

Company

Health Content

Join Us

Download HealthTap

Questions?