Duchenne Muscular Dystrophy – Symptoms and diagnosis

Duchenne Muscular Dystrophy – Symptoms and diagnosis

Duchenne-type muscular dystrophy (DMD) is a rare genetic disorder primarily affecting young boys. This progressive and debilitating condition gradually weakens muscles, leading to severe disability and a shortened lifespan. In most cases, this condition is passed down to males in the family. While the children can grow up normally in the initial stages, the signs can appear suddenly. Hence, this article delves into DMD, its symptoms, diagnosis, and treatment.

What is Duchenne-Type Muscular Dystrophy (DMD)?
Duchenne-type muscular dystrophy is a genetic disorder that primarily affects muscle function. It is one of the most common forms of muscular dystrophy, with an estimated incidence of 1 in 3,600 male births.
DMD is caused by mutations in the dystrophin gene located on the X chromosome. This results in the absence or deficiency of the dystrophin protein. Dystrophin plays a crucial role in maintaining the structural integrity of muscle fibers. So, its absence leads to muscle degeneration and weakness.

What are the symptoms of DMD?
The onset of symptoms in DMD typically occurs during early childhood, usually between the ages of 2 and 5. Common signs and symptoms of DMD include:

Muscle weakness
Initially, children may display difficulty in activities that require muscle strength, such as climbing stairs or standing up from the floor.

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