How is Duchenne Muscular Dystrophy Diagnosed? | World Duchenne Awareness Day

2 Sep, 2022

Duchenne Muscular Dystrophy (DMD) is a form of muscular dystrophy that presents as muscle weakness and progressive degeneration.

The condition is caused by a change in a protein called dystrophin, known to keep the muscle cells intact. DMD and spinal muscular atrophy are two of the most common types of atrophy that affect children in Australia. Estimates show these conditions affect 1 in every 3,500 live male births, and 1 in every 6000 live births.

Knowing how the condition presents and develops is imperative to taking proper action and ensuring those diagnosed can get the proper care they need. Keep reading this short article to learn everything you need to know about Duchenne Muscular Dystrophy.

What causes DMD?

The condition is caused by a defective dystrophin gene, meaning it is usually found in people with a family history of this condition. However, it is possible to occur in patients with no known history of a defective DMD gene.

The condition most often affects males. Boys with Duchenne muscular dystrophy have a 50% chance to inherit the defect from their mother if the mother is a carrier.

Unfortunately, unlike other types of muscular dystrophy such as Becker muscular dystrophy, DMD progresses very quickly, making it very important to identify the conditions as soon as possible. 

Symptoms of DMD

Boys with DMD are often late walkers as the condition is known to affect the legs before the arms. DMD may also make the child seem smaller for their age, as DMD slows down growth in the first few years.

Other common symptoms of DMD can include:

  • Muscle weakness
  • Difficulty climbing stairs, standing or running
  • Difficulty keeping their balance
  • Muscle cramping
  • Heart issues like cardiomyopathy
  • Shortness of breath, etc.

How Is DMD diagnosed?

If you suspect your child may be dealing with DMD, it’s important to reach out to your pediatrician as soon as possible.

The condition is diagnosed through an array of tests, such as:

  • Blood test – The doctor will take a blood sample from the child to see if there are signs of creatine kinase, an enzyme released when the muscles are damaged. If the CK levels are high, this could be a sign of DMD;
  • Genetic testing – The doctor could also look for the defective gene to determine a diagnosis;
  • Muscle biopsy – It involves taking a small sample of the child’s muscle tissue to check the levels of dystrophin

Treatment for DMD

Despite many clinical trials, there is no cure for Duchenne muscular dystrophy. However, there are several types of medication and therapies that can help manage the condition, improve muscle strength and even relieve some discomfort. 

Physiotherapy has been shown to help children with DMD manage their symptoms and relieve their discomfort. If your child was diagnosed with DMD, Gen Physio can help provide at-home physio health care.

Contact us today to learn more.

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