The Benefits of Genetic Testing for Neuromuscular Diseases
Neuromuscular diseases are known for affecting muscle function, resulting from issues with nerves and muscles, and the most common symptom is weakness. Affecting around 14m people around the world, neuromuscular diseases are often diagnosed through genetic testing.
In this article, we look at the benefits provided by genetic testing in relation to neuromuscular disorders, with the first being it allows more patients to get a definitive diagnosis. This provides closure, as well as advice on progression, prognosis and treatment.
Other benefits include:
Reducing diagnostic delays - as a first-line option, genetic testing shortens the diagnostic process, as well as helps people to avoid invasive and/or unnecessary investigations like nerve or muscle biopsies.
More appropriate surveillance - another advantage is that it allows for more appropriate surveillance to be carried out. For instance, patients diagnosed with LGMD (Limb-Girdle Muscular Dystrophy) benefit from pre-symptomatic cardiac screening.
More appropriate treatment - genetic testing also allows for more appropriate treatment to be provided, such as those diagnosed with spinal muscular atrophy being given access to SMA therapeutics.
Better access to clinical trials - a diagnosis gained can provide better access to emerging treatment methods and clinical trials. As such, genetic testing is now recommended for all amyotrophic lateral sclerosis (ALS) patients to allow for therapeutic intervention.
Allows for better family planning - when genetic testing provides knowledge of the causative variant and how it’s inherited, it allows for better family planning via predictive and carrier testing for at-risk family members.
Genetic testing for neuromuscular diseases reduces delays, allows for more appropriate surveillance/treatment, and provides better access to clinical trials and family planning. This is why it should be your first point of action when suspected neuromuscular diseases arise.
Providing You With Life's Important Answers
From our Blackrock Clinic, the Genetics.ie team offers a wide range of genetic testing services, including those relating to neuromuscular disease, under the watchful eye of renowned geneticist Dr Willie Reardon. To see our full range of services, please visit us today at www.genetics.ie where you’ll find what you need to know.
Alternatively, to speak to our team, call 087 4037149, and we’ll be more than happy to try and give you the important life answers you need.