Inherited Neuromuscular Diseases & How Genetic Testing Helps

While not all neuromuscular diseases can be described as genetic disorders, many are genetically determined. As such, genetic disorders are caused by gene variants, which are sometimes inherited from your parents. Each person has around 23,000 different genes, and genetic mutations within these genes are often the cause of genetic disease, even in the absence of a family history of the disorder.

Advances in DNA sequencing technology have made it possible for Doctors investigating patients living with neuromuscular disease to use genetic testing to identify a specific diagnosis. This then allows people to gain access to the best available care. 

Genes Determine Everything About You

What are genes? Well, they're a set of instructions that determine what your body looks like and how it works. In fact, they determine everything about you. Within each of your cells, you'll find two copies of each chromosome, which themselves house groups of genes. 

Genes are essentially DNA sequences coded with instructions, and they instruct each cell how to work and grow. When these instructions are incorrect in neuromuscular disorders, the amino acids link together incorrectly, meaning that part of the body does not work as it should. 

Identifying Gene Variants

Genetic testing allows for the identification of genes that lead to neuromuscular conditions when a variant is present. Identifying the root cause is important, as it allows clinicians to comprehend the root cause of the clinical problem and often elucidates the disease's mechanism. In time this understanding may lead to potential cures and treatments.

Genetic testing helps by:

• Shortening the diagnostic process

• Removing the need for invasive procedures

• Softening the impact on individuals 

• Identifying eligibility for treatments

When you suspect a neuromuscular disease is present in you or your family, genetic testing can give you the information you need to minimise its impact. You’ll understand not only what you’re dealing with but also the best way to treat the condition.

Meeting All of Your Genetic Testing Needs

At Genetics.ie, we offer a wide range of genetic services under the watchful eye of our owner, the highly-experienced geneticist Dr Willie Reardon. Whether talking about chromosomal disorders to cardiac genetics, we can give you the important answers you need. 
To find out more about us, visit us at www.genetics.ie, or to speak to us directly, call 087 4037149, and we’ll be happy to give you the advice you require.