What is Duchenne muscular dystrophy, the disease suffered by Isabel Gemio's son?

Isabel Gemio has returned to the front page of television after attending the Antena 3 program Y ahora Sonsoles as a guest.

Oliver Thansan
Oliver Thansan
19 June 2023 Monday 22:50
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What is Duchenne muscular dystrophy, the disease suffered by Isabel Gemio's son?

Isabel Gemio has returned to the front page of television after attending the Antena 3 program Y ahora Sonsoles as a guest. During the interview, the former presenter of spaces as mythical as Surprise, Surprise has mentioned her son Gustavo, who suffers from Duchenne muscular dystrophy.

Duchenne muscular dystrophy, also known by the abbreviation of DMD, is a disease that causes the progressive disorder of the muscle and, therefore, eventually causes the progressive loss of its functions.

Progressive muscle weakness causes extremely serious medical problems. The average life expectancy is 30 years, while at 12 years old, people who suffer from it usually already need the support of a wheelchair.

DMD is the most common muscular dystrophy during childhood. In fact, it is estimated that it affects 1 in 5,000 children in the world, since around 20,000 new cases are diagnosed each year.

Among the usual symptoms of this disease are muscle fatigue, which is unusual among boys and girls, and learning difficulties. In addition, it can also be detected from frequent falls, problems with motor skills, or difficulty getting up from a lying position or climbing stairs.

The most recent studies indicate that the origin of this disease lies in a mutation in the gene that encodes dystrophin. The absence of this component causes muscle cells to be easily damaged. Among the substances that escape from the interior of the muscle cell into the bloodstream, the release of creatine kinase or creatine phosphokinase (CPK) stands out, which participates in the production of energy that the muscle requires for its proper functioning.

DMD occurs mainly in males because the gene for this disease is located on the X chromosome.

Generally, this mutation is transmitted from mother to child, however, 35% of cases occur due to spontaneous mutation.