Muscular dystrophy

Girl in wheelchair smiles as carer blows bubbles

Muscular dystrophy gradually causes the body’s muscles to weaken and waste over time.

Muscular dystrophies are usually inherited conditions. There are about 30 variations, all involving muscle weakening and wasting.

Muscle weakness varies depending on the type of muscular dystrophy a child has, ranging from very mild to very severe. The most common form is Duchenne muscular dystrophy (DMD), which develops early in childhood.

Muscular dystrophies are progressive disorders, meaning symptoms often worsen as a child gets older. Affected children may gradually lose the ability to walk and eventually require a wheelchair. Life-threatening breathing difficulties and heart problems can also develop.

There is no cure but therapy, exercises and medication can sometimes help with symptoms. Research is expanding our understanding of how the conditions and symptoms occur, improving the chances of finding new treatments.

Who does it affect?

Muscular dystrophy affects about one in every 1,000 children.
Muscular dystrophies are usually diagnosed when a child is between the ages of two and five when early signs of muscle weakness are apparent.
Duchenne muscular dystrophy mostly affects boys but in rare cases it can affect girls.
About one in 3,500 to 6,000 boys are born with Duchenne muscular dystrophy worldwide each year.

For more information about children with muscular dystrophy visit Raising Children Network.

Our muscular dystrophy research

Our research aims to improve understanding of muscular dystrophies including Bethlem myopathy, Duchenne muscular dystrophy and Ullrich congenital muscular dystrophy. Understanding disease pathways and how they cause muscle damage, inflammation and fibrosis (thickening and scarring) might provide new treatment opportunities.

We’re investigating alternatives to steroids as they can cause weight gain and shorter stature. This includes trialling a drug with Antisense Therapeutics to reduce inflammation in boys with DMD. Early studies show improved muscle function and performance.

Other studies are investigating if a protein can prevent progressive muscle weakness and wasting in DMD, and assessing if the drug Ataluren can correct gene mutations to enable production of the dystrophin protein in skeletal muscle which is absent in DMD and deficient in Becker muscular dystrophy.

We’re collecting stem (‘seed’) cells from patients’ blood and growing them into tissues including skeletal muscle which connects muscles to bones, allowing movement. We use these muscle cells to study the patient’s disease and are trying to develop skeletal muscle mini-organs to study muscle disease, and identify new drug targets and treatments.

Our studies are surveying care and equipment availability, assessing if nutritional supplements improve function, if calf massage helps and which footwear reduces falls and fatigue.

Impacts of our research

Little boy walking in the park with grand father

Impacts of our research

We found a gene linked to performance in elite athletes also influences disease severity in Duchenne muscular dystrophy. We showed there was a link between a common variant in the gene alpha-actinin-3 (ACTN3), and the degree of muscle weakness and rate of disease progression of Duchenne muscular dystrophy. Our tests showed the variant does not produce ACTN3 protein needed for rapid, forceful movement such as sprinting. In DMD the variant and absence of this protein (also called dystrophin) contribute to weaker muscles.
As a result, testing for the ACTN3 gene will likely become part of a more personalised and targeted approach when treating Duchenne muscular dystrophy. Our work looking at the influence of the gene on muscle strength and damage in DMD patients and understanding its role in individual cases will guide the selection of interventions, aiding the generation of new treatments to improve muscle metabolism, bulk and strength.
We previously found variants of the gene influence muscle mass and strength generally, and in elite athletes, muscle performance. The gene is dubbed the ‘gene for speed’ due to its link with sprinting ability.
We created a guide for health professionals treating DMD patients including dosing for creatine monohydrate protein supplementation.

Our vision

Through our research, we are developing a better understanding of a patient’s disease and establishing new therapies for people with muscle diseases. Through this, we aim to improve the quality of life for children with muscular dystrophies.