Duchenne is a condition that affects the muscles in the body. The muscles of the hips, pelvic area, thighs and shoulders are usually affected first, with the skeletal muscle in the arms, legs and trunk affected as the condition progresses. Progressive muscle weakness leads to a number of medical problems, particularly relating to the heart and lungs. Duchenne can also affect some aspects of behaviour and learning.

Some of the signs and symptoms of Duchenne include:

  • Delayed walking and trouble with running, climbing stairs and rising from the floor.

  • Appearance of large calf muscles (as a result of muscle damage and build up of fibrous tissue) known as pseudohypertrophy.

  • Poor balance leading to increased chance of falling.

  • Walking on the toes, caused by stiffness in the tendons of the leg and foot. Toe walking can be reduced by appropriate physiotherapy support, for example stretching of the leg muscles or wearing day/night leg splints.

  • Muscle degeneration in Duchenne is not associated with pain, although muscle stiffness and muscle cramps may cause pain. It is important to balance exercising and resting muscles, this will help to maintain muscle function for as long as possible.

  • Gower’s sign is shown in Duchenne as a sign of muscle weakness of the lower limbs. Individuals may use hands to move up the legs to stand from the floor, this is due to reduced hip and thigh muscle strength.

Figure 1 - Children with Duchenne muscular dystrophy show Gower’s sign, a movement expressed when standing from the floor as a result of muscle weakness in the lower limbs. Image by Translarna.co.uk (About Duchenne Muscular Dystrophy - Signs and symptoms, 2017).

There are established behaviour and learning risks in Duchenne. Studies have shown difficulties in some the following areas:

  • Speech delay and/or language comprehension.

  • Learning to read – especially phonics.

  • Problems with counting and arithmetic.

  • Short term and working memory (holding something in your head while you do something else) – this is very important when you are learning to read or do maths, as well as when you are following instructions.

  • Emotional control.

If you have Duchenne you have a higher risk of having the following diagnoses as well (but not everyone with Duchenne has them!):

  • Attention Deficit and Hyperactivity Disorder

  • Autistic Spectrum Disorder

  • Obsessive Compulsive Disorder

It is important to note that not every child with Duchenne will encounter all of these behavioural and learning difficulties, with some individuals having no issues. With adequate help and support your child can work through these issues.

Figure 2 - Some of the signs and symptoms that are characteristic of Duchenne muscular dystrophy including Gower’s sign and poor balance.


Symptom progression

Due to the progressive nature of Duchenne, the condition changes over time. It is important to note that these are gradual changes, nothing happens overnight. Some of the major changes include:

  • Losing the ability to walk, requiring a wheelchair to move around.

  • Spine may start to curve as back muscles weaken.

  • Upper body and arm muscles weaken.

Heart

The absence dystrophin can lead to problems with the heart, known as cardiomyopathy.

Lungs

As a result of progressive weakness of muscles controlling the lungs, difficulties with breathing can arise, making the lungs less effective.  


Figure 3 - Duchenne is characterised by the progressive loss of muscle strength,primarily affecting muscles of the hips, pelvic area, thighs and shoulders. As Duchenne progresses skeletal muscles in the arms legs and trunk are affected. The progressive muscle weakness can lead to many difficulties.

More information about the diagnosis and management of Duchenne can be found in the DMD guide.