Muscular Dystrophy - What is it & How is it Diagnosed?

Hello and welcome to the latest blog from Genetics.ie, where we provide clarity on the genetic testing services we offer to our patients. Today, we look at muscular dystrophy, what causes it and how the condition is diagnosed. As always, we’ll start by looking at a definition of the condition that we’re talking about.

What Are Muscular Dystrophies?

The term muscular dystrophies (MD) describes a group of genetic conditions which cause the muscles to gradually weaken, resulting in increasing disability. MD is a progressive condition, meaning that it worsens over time, often affecting a particular muscle group before eventually affecting others on a more widespread basis.

Some forms of MD may eventually affect muscles used for breathing or involve the muscle of the heart. At present, there is no cure for MD, but treatment exists to help manage many of the associated symptoms.

How is MD Caused?

Changes in the genes responsible for the functioning and structure of a person’s muscles are the cause of MD. These changes affect the muscle fibres and their ability to function, leading to increasing disability over time.

These mutations are often passed down from a person’s parents, so if you have a family history of MD, your GP may refer you for genetic testing and counselling to assess your risk of developing the condition or of having a child with MD. Some cases of MD arise as new genetic events and recognising the clinical signs is critical to diagnosing the disorder.

There are many types of MD in existence, which include:

●        Congenital Muscular Dystrophy

●        Duchenne Muscular Dystrophy

●        Limb-Girdle Muscular Dystrophy

●        Becker Muscular Dystrophy

●        Emery–Dreifuss Muscular Dystrophy

●        Myotonic Dystrophy

●        Distal Muscular Dystrophy

●        Facioscapulohumeral Muscular Dystrophy

How Is MD Diagnosed?

Typically speaking, a physical examination is used to diagnose MD, as well as a person’s family medical history and testing, which may include:

●        DNA (Genetic) Testing

●        Nerve Conduction Tests or Electromyography

●        Blood Enzyme Tests

●        A Muscle Biopsy

When dealing with Becker and Duchenne muscular dystrophies, a muscle biopsy may illustrate whether a muscle protein known as dystrophin is abnormal or missing, with genetic testing being employed to assess the characterisation of the DNA alteration of the related gene.

Adhering to the Highest Clinical Standards

Genetic testing for muscular dystrophies is just one of the testing services we offer under the supervision of the highly experienced Dr Reardon. This allows us to give you the important insight you need while meeting the highest clinic standards and levels of patient care.

To learn more about what we offer and the considerable expertise of our Founder, Dr Reardon, visit us today at www.genetics.ie or call us on 01 206 4329 to speak to a member of our expert team.