Symptoms of Duchenne Muscular Dystrophy
Duchenne can cause a range of symptoms, including some that don’t seem directly connected to muscle function. While it usually isn’t diagnosed until a child is at least 2 years old, certain signs of the condition may appear even before this, although they can be difficult to recognize.
Muscle Weakness and Movement Problems
The main symptom of DMD is muscle weakness, which causes trouble with movement. Children with the condition may have:
- Delay in learning to sit up or stand
- Trouble running or jumping
- A tendency to walk on tiptoe
- Frequent falls
- Less muscle mass
- A “waddling” style of walking
Another telltale sign of Duchenne is abnormally large calf muscles, a development known as pseudohypertrophy. The enlarged area isn’t normal muscle tissue but may contain scar tissue or fat.
Most children with Duchenne need help walking by age 8 or 9 and typically need to use a wheelchair by age 12.
Cognitive and Behavioral Symptoms
The same protein that’s missing in muscle cells in DMD, called dystrophin, also plays a role in certain brain functions. This is believed to account for cognitive problems seen in about one-third of children with Duchenne, which can include:
- Delay in learning to talk
- Trouble reading and writing
- Poor impulse control
- Attention problems
- Learning disabilities
Heart and Respiratory Symptoms
While they don’t tend to cause noticeable symptoms early on, heart and breathing problems develop over time in everyone with Duchenne. By their late teenage years, children with Duchenne will usually have heart structure problems called cardiomyopathy, which reduces the heart’s ability to pump blood.
Breathing difficulties develop in Duchenne because of weakened muscles, eventually requiring some form of respiratory support like using a bilevel positive airway pressure (BiPAP) machine at night.
Other Symptoms
In addition, children with Duchenne may have:
- Fatigue
- Stiff joints
- Curved spine
- Increased risk of broken bones
- Digestive problems including diarrhea and constipation
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