People with DMD do not produce dystrophin, a protein that strengthens muscle fibers and controls contraction and relaxation.
While othermuscular dystrophiescan appear in adults later in life, DMD affects people from birth.
Babies born with DMD begin to show signs of disease during their first two years of life.
Photo composite by Michela Buttignol for Verywell Health; Getty Images
Evidence of DMD can appear as early as 2 to 3 months of age.
Babies with DMD may fail to meet early milestones such as head control.
However, it often takes time to differentiate these symptoms of DMD from other developmental delays.
With early symptoms, there is no muscle wasting or weakness, but there are developmental delays.
It isnt until more classic signs of the disease develop that DMD will be suspected.
Physical DMD Symptoms in Children
Symptoms of DMD in children involve muscle loss and weakness.
These symptoms include:
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Progressive and Chronic DMD Symptoms
As children age, DMD symptoms progress and may cause complications.
Often, these are related to the lungs and heart.
They may also need help with breathing and coughing.
This can lead to an emergency where assisted ventilation is necessary for survival.
The heart is a muscle that is also affected by DMD.
In some cases, parents were dismissed as being overly worried.
However, that should never deter you from voicing your concerns.
DMD is a rare disease.
Most children who fail to meet milestones will not have DMD.
However, parents who suspect their child may have DMD should note their concerns.
Researchers have noted that some early delays can be signs of DMD in infants.
A blood test to checkcreatine kinase(an enzyme found in the muscles) levels is very telling.
Elevated creatine kinase levels are associated with DMD.
If levels are elevated, a specialist can investigate further.
The standard protocol for treating DMD focuses on the muscles, heart, and lungs.
Physical therapy can also help people with DMD remain mobile for longer.
As respiratory function decreases, non-invasive ventilation methods are used to help with breathing.
Medications such asangiotensin-converting enzyme (ACE) inhibitorsand beta-blockers can help with DMDs effects on the heart.
DMD is a progressive disease diagnosed within the first 3 to 5 years of life.
By the age of 10 to 12, most people with DMD will need a wheelchair.
Specialists examine these and conduct further testing to determine whether someone has DMD.
Genetic and Rare Diseases Informational Center.Duchenne muscular dystrophy.
2023;11:1276144. doi:10.3389/fped.2023.1276144
National Organization for Rare Disorders.Duchenne muscular dystrophy - symptoms, causes, treatment.
March 25, 2024.
