Carrier Screening For Nemaline Myopathy.docx by robertfogartys


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									Carrier Screening For Nemaline Myopathy
Becoming a new parent is a big step, and everyone wants to make sure that they are doing the
right thing or at the very least the best thing for their little bundle of joy. When is it going
overboard? When is it too much? Genetic screening is on the rise with good reason. With so
many new discoveries in medicine and science on basic life improvements, why can’t soon-to-be
parents be concerned about what they may be handing down?

So many new and “rare” disorders and health risks are passed from parent to child. Nemaline
Myopathy is a seemingly rare bone disorder that is passed genetically. Most bone disorders have
the name myopathy in it referring to the bone itself. There are roughly six variations, all with
varying levels of severity. One of the more severe forms found at birth, also referred to as
congenital, can be life threatening. Most commonly reported cases that are found today are
known as “typical congenital Nemaline Myopathy” and those diagnosed walk around and lead
semi-normal and active lives.


As genetic disorders go, the age and onset of symptoms will vary from case to case even within
family and bloodlines. Sometimes referred to as NM, repertory distress is one of the biggest
concerns. Since the skeletal and muscular system is weak it can also become a challenge to eat,
drink, and swallow normally. Facial muscles, motor skills, and function are a few of the
symptoms that come along with it. A sign that medical advice and intervention is needed can be
something as simple as a child/baby presenting a lifeless floppy appearance.


Many different techniques can be used to discover the disorder after birth. Some muscle imaging
studies like Muscle Ultrasonography can be used to show some of the changes that are
significant in a healthy patient vs. non-healthy. Nerve conduction studies can be used to show
changes in the motor functions on a low level due to muscle loss and function. In order to obtain
a clinical diagnosis a person would need to exude a multitude of symptoms accompanied by a
family history of consistent genetic characteristics.


With so many health facilities and private companies offering screening for some of the more
prevalent and common childhood illnesses, it never hurts to ask a doctor about more extensive
research into a family’s genetic background. Information is the gateway to healthier smarter
choices and lives, gather all that is needed.


Since this is a genetic disorder there is little a person can do to completely rule out the chances of
passing it on. Some research has found that defective filament proteins aid in the rise of the
disorder. Science has come a long way with genetic screening and makers giving those who are
concerned about the possibility a chance to take steps in the right direction.

It is reported that only 1 in 50,000 people actually have Nemaline Myopathy and even less live a
debilitating life.

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