Duchenne muscular dystrophy: This is why early detection of this hereditary disease is so important
Parents are quick to worry when children are a little slower in their development than their peers – these fears are usually unfounded and the little ones’ abilities level out over time. In rare cases, however, the hereditary disease Duchenne muscular dystrophy can also be behind developmental delays. We will explain to you which signs you should look out for in your child and why early detection is so important.
The good news first: Since Duchenne muscular dystrophy (DMD) is a relatively rare hereditary disease that mainly affects boys, the vast majority of suspected cases turn out to be unfounded. But precisely because DMD only occurs in about 1 in 3,600 to 6,000 children, parents should recognize warning signs in order to be able to assess whether there is a risk.
Although it has not yet been possible to cure DMD, symptoms can be alleviated and complications reduced by the timely start of suitable measures, and the quality of life of the little patients can be significantly improved. That is why early detection of the disease is so important!
The first signs of DMD can already appear in infancy. Due to a change in the genetic material, no functional muscle protein called “dystrophin” is formed in DMD patients. The lack of this protein means that first the movement muscles and later also the respiratory and heart muscles break down. However, detecting DMD as early as possible is still a challenge – for both parents and doctors.
But what early signs can be a first red flag that something is wrong? What developmental delays might indicate DMD? What to do if you suspect the child may have DMD? We help you to recognize signs that could indicate Duchenne in your child and also explain who you can contact to have a suspicion checked.
Recognize early signs of DMD
Signs that can indicate DMD are diverse and unfortunately not always clear. Nevertheless, specialists have compiled a list of warnings that could indicate DMD disease according to age.
By the end of the second year of life, early warning signs are:
- Your child cannot hold its head up by itself at 3 months
- No free sitting at 9 months
- No active crawling at 9 months
- No active pulling up to standing at 12 months
- No hanging along on furniture/wall at 15 months
- Abnormalities in speaking, learning, behavior compared to peers at 14 months
- Limp, uncoordinated and lacking in energy overall impression
- Your child cannot walk freely at 18 months
In addition, there are also later warning signs. From the third to fifth year of life, more attention should be paid to the following symptoms:
- Your child falls often
- It has difficulty running/jumping
- It has difficulty climbing stairs
- It has thick calves
- Your child walks on tiptoe
- It has a “waddling” gait
- It has less stamina than its peers
- It pushes/pulls itself up on its own body when standing up
If there are concerns that one or more of these signs may be more than normal developmental delays, a blood test will provide more clarity. In this test, the muscle enzyme creatine kinase (CK-MM) is determined. If the CK-MM levels are significantly elevated, a specialist in nerve and muscle disorders in children and adolescents (neuropaediatrician) should be consulted.