Myotonic Dystrophy & Our Diagnostic Expertise

The Genetics.ie team offers a wide range of testing services for an array of conditions, including chromosome disorders, birth defects and developmental disorders. We work with fully accredited laboratories with whom we have established close links. 

Today, we're here to talk about one particular condition - myotonic dystrophy - and the expertise we have in diagnosing the problem. 

So, What Is Myotonic Dystrophy?

The main characteristics of myotonic dystrophy are progressive weakness and wasting of the muscles. Those with this disorder often experience involuntary muscle contractions (myotonia), such as not being able to release their grip on a door handle. 

Congenital myotonic dystrophy is typically apparent at birth, with the following symptoms associated with the problem:

• Weak muscle tone (hypotonia)

• Breathing problems

• Delayed development

• Intellectual disability

• Clubfoot 

The key to gaining a genetic understanding of any type of muscular dystrophy is an accurate diagnosis, however, myotonic dystrophy is often overlooked as a possible diagnosis for progressive muscle weakness. 

Our Experience & Expertise in This Area

This inherited condition is known to vary in terms of clinical effects in different generations of families affected, and Dr Willie Reardon has long experience and expertise in dealing with this particular condition while working in Cardiff in the 1990s. 

His work during this time involved cloning the gene for the disorder, with his research now forming the basis of diagnostic tests for myotonic dystrophy now carried out in genetic laboratories around the world. 

Here to Meet All of Your Genetic Testing Needs

Myotonic dystrophy is just one area in which our team is able to help you, with all testing services being carried out under the supervision of Dr Reardon. With decades of genetic testing experience, patients visiting us at our Blackrock clinic are in excellent hands. 

To find out more about us and the genetic testing services we offer, visit us online today www.genetics.ie or call us on 01 206 4329 where a friendly member of our team is waiting to help you in any way they can.