What is Duchenne muscular dystrophy? | THE UNIVERSAL

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In an emotional and painful announcement, Colombian actress Luly Bossa confirmed the tragic loss of her son Ángelo, who was fighting Duchenne muscular dystrophy. The news was shared through a reel on the actress’s Instagram account, where she expressed her regret and requested help to give Angelo a dignified farewell. Read here: Luly Bossa’s son died: the actress asks for help for the funeral

Luly Bossa had previously shared her journey with her son on social media, showing the courage with which they faced the daily challenges associated with the disease. Her connection with her fans grew stronger as she shared the ups and downs of life alongside Angelo, becoming a voice of conscience about the reality of those facing complex medical conditions.

In the video announcing Angelo’s departure, a moved Luly Bossa thanked those who accompanied her during this difficult path and, in a gesture of necessity and transparency, requested financial support to cover funeral expenses. The actress shared the details of a Bancolombia bank account, giving those who wish to help a concrete way to do so.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a rare and degenerative genetic disease that mainly affects the muscles, causing progressive deterioration and complicating the mobility of those who suffer from it.

Named after French physician Guillaume Benjamin Amand Duchenne, who first described the condition in the 1860s, DMD occurs mostly in males, with an incidence of approximately 1 in every 3,500 male births, and is a condition that has no known cure so far. You may be interested in: Discover myths and truths about obesity

Causes and genetics

DMD is caused by a mutation in the DMD gene, which encodes the protein dystrophin. This protein is essential for maintaining normal muscle structure and function. In individuals with DMD, the lack or deficiency of dystrophin leads to progressive muscle deterioration.

The genetic mutation responsible for DMD is inherited in an X-linked recessive manner. Because women have two X chromosomes (XX) and men have one (XY), the disease predominantly affects men. Women are generally asymptomatic carriers of the mutation.

Symptoms and diagnosis

DMD symptoms usually begin between 3 and 5 years of age. Affected children show progressive muscle weakness, difficulty walking, loss of motor function, and eventually heart and breathing problems. The diagnosis is confirmed by genetic testing that identifies the mutation in the DMD gene. Read: Menopause: 3 tips that help women in this stage of life

Impact on daily life

DMD significantly affects the quality of life of those who suffer from it and their families. Disease progression leads to loss of the ability to walk, the need for wheelchairs, and may require respiratory assistance as the respiratory muscles weaken.

Treatments and therapeutic approaches

Currently, there is no cure for DMD, but notable research and advances are being made in the field of gene therapy and other innovative strategies. Standard treatment involves supportive measures, such as physical therapy and medications to address specific symptoms.

Gene therapy has emerged as a promising hope. In this approach, the aim is to correct the genetic mutation directly or provide a functional copy of the DMD gene. However, these treatments are still in the early stages of development and evaluation.

The role of awareness

Future perspectives

As research continues, advances in understanding genetics and molecular biology are expected to offer new opportunities for the treatment and eventually cure of DMD. Growing public awareness and support for research are key to driving this progress and improving the lives of those affected by this devastating disease.

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