Muscular dystrophy refers to a group of rare, genetic, progressive diseases that primarily affect the body’s muscles, causing them to weaken and deteriorate over time. While muscular dystrophies are often diagnosed in childhood, some types appear in adulthood.
As the diseases progress, patients can experience muscle wastage and loss, which can severely affect their movement ability and sometimes their ability to breathe. There are around 30 types of muscular dystrophy, each with differing symptoms and severity. One of the most common forms of muscular dystrophy is Duchenne muscular dystrophy (Duchenne).
Globally, Duchenne is the most prevalent form of muscular dystrophy in children. It primarily affects boys, and it is estimated to occur in approximately one in every 3,500 to 5,000 live male births worldwide, resulting in about 20,000 new cases annually.
The full-body impact of Duchenne
Duchenne is a serious condition that affects the muscles, causing them to become weaker and deteriorate over time. In Europe and North America, Duchenne affects six out of every 100,000 individuals.
Duchenne is a genetic condition caused by different mutations (changes in the DNA) within the dystrophin gene. This gene is responsible for producing the dystrophin protein, which plays an important role in keeping muscle cells intact. It acts like a shock absorber in muscle cells, helping to protect muscle fibres from getting damaged during contractions. Without enough dystrophin, muscles gradually become damaged and weaker.
The dystrophin gene is one of the largest in our body and is located on the X chromosome. While Duchenne is typically inherited, about one-third of cases arise from new mutations that occur spontaneously (with no family history). Males, who inherit one X chromosome from their mother and one Y chromosome from their father, are more likely to develop this condition.
They will develop Duchenne if their X chromosome carries the mutation, as they lack a second X chromosome to compensate. Females have two X chromosomes, so if only one carries the mutation, the other usually provides enough dystrophin to prevent the disease. However, they can still pass the mutation on to their children (as ‘carriers’). Only around 10% of female carriers exhibit symptoms of the disease, and these are typically milder than those observed in males, with a few exceptions.
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