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. Click on: http://www.goodstartgenetics.com
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. Symptoms 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. Discovery 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. Protection/Defense 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. Help 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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