Myotonic Dystrophy | Muscular Dystrophy Queensland

Myotonic muscular dystrophy (MMD) and congenital myotonic dystrophy (CMD)

Myotonic muscular dystrophy (DM or MMD), also known as Steinert’s disease, is the most common form of adult muscular dystrophy.

In children, the condition is referred to as congenital myotonic dystrophy, and symptoms may be present from birth. DM is part of a group of genetic disorders that cause progressive muscle weakness and can affect many other systems in the body.

DM is a genetic condition that occurs when a section of the faulty gene (either the DMPK gene in type 1 or the CNBP gene in type 2) becomes larger than it should be. This abnormal expansion interferes with the normal processing of genetic messages sent to muscle cells. As a result, the muscles do not function as they should, leading over time to muscle weakness, fatigue and other complications. Although the mutation is present from birth, symptoms may not appear until adolescence or adulthood, depending on the type and severity of the condition.

Types of Myotonic Dystrophy

  • Type 1 DM (DM1)
  • Congenital-onset DM1
  • Childhood or juvenile-onset DM1
  • Adult-onset (classic) DM1
  • Mild DM1
  • Type 2 DM (DM2)

Myotonic

A key characteristic of DM is myotonia, which refers to difficulty relaxing a tightened or contracted muscle. This symptom can cause everyday tasks such as gripping objects, walking or speaking to become challenging. Myotonia can vary in severity and may be more noticeable during cold weather or after periods of inactivity.

The disease is caused by unstable expansions of repeated sections within the genes. These repeated sequences tend to grow larger when passed from one generation to the next. This process, known as anticipation, often results in symptoms appearing at an earlier age and with increased severity in each subsequent generation. This is particularly common when the condition is inherited from the mother.

Myotonic muscular dystrophy can affect a wide range of muscle groups and bodily functions. This includes the skeletal muscles that support movement, as well as the muscles of the hands, feet, face, and neck. The condition can also impact other systems, including the heart (leading to rhythm disturbances), the lungs and respiratory muscles (affecting breathing), the eyes (such as early-onset cataracts) and the gastrointestinal and endocrine systems. Some individuals may also experience difficulties with cognition, sleep and energy levels.

If you or a family member has recently been diagnosed with Myotonic dystrophy, we’re here to help you. 


We are here to support you

Medical Alert Cards

Medical Alert Cards


Muscular Dystrophy Queensland has created condition-specific alert cards for the most diagnosed muscle-wasting conditions.

These cards mean that people living with muscle wasting conditions and their families will have the security of knowing they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with these conditions.

Order our Medical Alert Card for Myotonic dystrophy type 1 and type 2 today

Order your Medical Alert Cards

 

Community Members

Register with us

By becoming a registered Community Member of Muscular Dystrophy Queensland you will be able to gain access to relevant supports.

At Muscular Dystrophy Queensland we don’t see you as just a client. You are a valued member of our community. We’re here to support you through every stage of life. We’d like to keep in touch with you, to understand your needs as they evolve and provide you with ongoing access to our range of services.

Register today

Make an enquiry

* Mandatory fields

If you live outside of Queensland we will refer your details to your state's organisation.
How would you prefer to be contacted?
How can we help you?
Agreement*
You can read our Privacy Policy here
Communications Opt In

Useful Resources

Visit The Loop Neuromuscular Resource Hub

The Loop Neuromuscular Resource Hub

Visit site

Muscular Dystrophy Association (USA)

The Muscular Dystrophy Association is based in the USA and is a wealth of information for neuromuscular conditions.

mda logo horizontal 2 Muscular Dystrophy Queensland

Visit site

Myotonic Dystrophy Foundation

The Myotonic Dystrophy Foundation provides support groups for people living with myotonic dystrophy, as well as education and research.

Myotonic Dystrophy Foundation

Visit site