If you decide for your baby to be included in the scoping study, your baby will be tested for DMD alongside other health conditions as part of a pilot newborn screening program. The test is a heel prick test performed shortly after birth.

The test will measure if there are any DMD-indicating enzymes found in your baby’s blood.

With no curative treatments for DMD, an early diagnosis through newborn screening programs are critical in providing early symptom management to slow disease progression. 

Since DMD is a rare muscle condition, most babies have a normal test result.

• It will support DMD being included in the current newborn screening programs, including the NSW Newborn Screening Program, allowing for early DMD diagnosis.
• It will help provide early diagnosis, which could allow families access to new treatments through clinical trials.
• It will help provide families who receive a diagnosis support early-on, including physiotherapy, support resources and support networks. Some families find an early diagnosis helpful in making decisions about future family planning.
• It will save families unnecessary time in testing for DMD later in life.

• It may be distressing to some families to receive a DMD diagnosis in the newborn period, especially if there is no immediate action or treatment available. For this reason, some families may choose not to participate. If their child has DMD, the child will develop symptoms at some stage in childhood and the family can seek medical attention then.

What is DMD?

Duchenne muscular dystrophy or DMD is a rare genetic muscular condition that affect boys. DMD symptoms usually start to appear in early childhood presenting as difficulties with movement. Each boy with DMD is impacted differently. Current treatments can only help manage symptoms and slow its progress.

An individual with DMD cannot make enough of a functional protein called dystrophin. Without the right amount of dystrophin, muscle fibres lack proper protection, leading to muscle damage over time. As the muscles deteriorate, they weaken, which can cause difficulty with walking. Other body parts can also become weakened, such as the muscles of the heart and lungs.

How do we test for DMD?

The enzyme we measure is creatine kinase (CK). In healthy muscle, the CK enzyme stay inside the muscle. In DMD, the weakened muscles cause a form of CK (CK-MM) to leak out of the muscle and into the blood.

By measuring the levels of CK-MM in blood, it could indicate that DMD will develop later in life.

What happens if the test comes back positive?

When a baby has a positive newborn screen for DMD, follow-up testing is recommended to confirm the positive screening result. If this happens, a doctor will notify you to inform next steps. 

A positive screen does not mean your baby has DMD. Follow-up testing, which can be called diagnostic testing, is conducted to know for sure if your baby has the condition.

False positives can occur. A false positive occurs when a newborn screen is positive for a condition, but follow-up testing shows that this is not the case.

• Genomic testing factsheet
• Life insurance products and genetic testing factsheet
• My NDIS Planning Toolkit (Muscular Dystrophy NSW)
• You Neuromuscular Resource Hub (The Loop)
• Mental Health support
  • Beyond Blue
  • Black Dog Institute