With gene, while type C is caused by

With the advancements in
technology, many diseases can now be attributed to gene mutations. Niemann-Pick
disease (NPD), an untreatable and ruthless disease, is one of them. Affecting 1
in 200,000 individuals, those born with this disease have untreatable symptoms and a shorter
lifespan. Individuals that are part
of the Ashkenazi Jewish ethnic group, or are from North Africa, Nova Scotia, or
Chile are at an even higher risk for this disease. If you have a family history
of NPD or are part of these groups, a genetic test is essential to see whether
your child is at-risk for this disease.  


According to the National
Institutes of Health (NIH), NPD is an autosomal recessive disorder. This means
that your child has a 25% chance of inheriting this disease if you and your
partner carry the same gene mutations. Different subsets of this disease exist:
type A, B, and C. Type A and B are caused by mutations in the SMPD1 gene, while
type C is caused by mutations in the NPC1 or NPC2 gene. In types A and B, there is a deficiency
of acid sphingomyelinase (ASM) activity. ASM is an enzyme that breaks down
sphingomyelin, a lipid present in all cells. This deficiency results in an
insufficient metabolism of sphingomyelin, causing harmful accumulation. Type C results
in improper transport of cholesterol due to malfunction in a protein required for
cholesterol movement. A genetic test will let you know whether your
child is in danger of inheriting mutations that lead to NPD.

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All three types of NPD are
deadly. NIH states that type A is first in its onset with symptoms appearing at
3 months of age. Infants first develop an enlarged liver and spleen (hepatosplenomegaly)
and then face neuron degeneration, loss of motor control, and respiratory
failure. Death is expected by age 3. In type B, symptoms such as delayed growth
and affected respiratory function present themselves later in childhood.

Children with type C will have seizures, dementia, and ataxia (trouble coordinating
movements). Life span usually lasts until adulthood. For individuals with a
family history of NPD, these painful symptoms may be familiar to you. Unfortunately,
treatments are not available for NPD. Symptoms can be managed but nothing can cure
the disease. Information from a genetic test will allow you to know whether
your future child might face the same merciless symptoms.


According to
Wasserstein and Schuchman, types A and B can be diagnosed by determining if ASM
activity is less than 10%. This is done by examining white blood cells, which
requires a blood test or a skin biopsy. For type C, a skin biopsy is used to
determine whether inappropriate cholesterol processing is occurring in
fibroblasts. However, these tests might not always be accurate; positive test
results do not necessarily mean that an individual will show symptoms. In addition,
these biochemical tests can’t always distinguish between having the disease or
being a carrier. Instead, individuals can take a genetic test. The SMPD1 and
NPC genes are sequenced to determine whether you carry mutant genes that may be
passed on to your child. Improved sequencing methods have allowed genetic tests
to better identify mutations associated with NPD. In fact, genetic testing usually has a 90 to 95%
chance of identifying mutations linked to NPD.


The information obtained from a genetic test
will allow you to make a better decision for your children. It will tell you
whether you or your partner carry mutations. Although it doesn’t tell you if your
child will have NPD, it gives you a better assessment of the risk associated
with having children. It is also possible that you have a variant that hasn’t
been identified yet, but many mutations have been recognized, making this possibility
low. With this information, you can reduce the uncertainty associated with
having kids. It can also help you decide whether you should have children or you
should consider other options such as adoption.


Taking a genetic test before conceiving is
highly advisable. Its especially recommended if you have a family history of
this disease and know the mutations in your family or if you are part of the
groups where this disease is prevalent. This information will allow you to make
an informed decision about having children that other tests can’t provide. It
can prevent the extreme harm and suffering your child and yourself might face. We
all want the best for our children and genetic testing is one way to ensure


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