Symptoms and diagnosis of Duchenne muscular dystrophy

Duchenne muscular dystrophy, or DMD, is a rare, progressive genetic disorder that affects the muscles, primarily in males. DMD is characterized by the weakening and degeneration of muscle tissue, leading to significant mobility issues and, in many cases, a shortened lifespan. While a cure for the condition is yet to be determined, ongoing research seeks to improve management and treatment options. Find below the signs of DMD and ways to diagnose the disease.

Signs and symptoms
DMD is a condition that typically presents early in childhood. The signs and symptoms of DMD may vary in severity but generally become more pronounced as the child grows older. Some common indicators include:

Muscle weakness
One of the earliest signs is weakness in the muscles of the pelvis and upper legs. Children with DMD may struggle to get up from the floor or climb stairs.

Delayed motor milestones
Affected children often experience delays in reaching motor milestones, like sitting up, crawling, and walking. Some may never achieve independent walking.

Waddling gait
As the disease progresses, the weakening of leg muscles causes a waddling gait that makes walking more challenging.

Frequent falls
Children with DMD may experience frequent falls due to muscle weakness, making activities that require balance and coordination difficult.

Enlarged calves
Another distinctive feature of DMD is calf muscle enlargement, caused by the replacement of muscle tissue with fat and connective tissue.

Muscle contractures, where joints become stiff and less flexible, are common. These may affect the ability to move arms and legs freely.

Respiratory issues
As DMD progresses, respiratory muscles weaken, leading to breathing difficulties. This could result in the need for ventilatory support.

Heart complications
DMD may affect the heart, causing cardiomyopathy (enlarged heart) and potentially leading to heart failure.

Diagnosing DMD typically involves a combination of healthcare evaluations, genetic testing, and muscle biopsies. Here’s how it is typically diagnosed:

Evaluation at a healthcare center
A healthcare provider may assess the child’s health history and conduct a physical examination. They may look for the signs and symptoms mentioned earlier, paying close attention to muscle weakness and motor delays.

Genetic testing
To confirm the diagnosis, a genetic test is usually performed. Most cases of DMD are caused by mutations in the DMD gene, which encodes a protein called dystrophin. Genetic testing may identify these mutations.

Muscle biopsy
In certain cases, a muscle biopsy may be performed to examine muscle tissue under a microscope. This might help confirm the presence of muscle degeneration.