Demystifying Duchenne Muscular Dystrophy

26 Jul, 2015 - 00:07 0 Views
Demystifying Duchenne Muscular Dystrophy The condition is known to affect 1 in 3 600 boys

The Sunday Mail

Duchenne Muscular Dystrophy (DMD) is a rare condition that weakens body muscles and eventually causes permanent disabilities, mostly in males.

According to Wikipedia, the disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. Dystrophin is an important component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females are rarely affected.

Symptoms usually appear in boys between the ages of 2 and 3 and may be visible in early infancy. Even though symptoms do not appear until early infancy, laboratory testing can identify children who carry the active mutation at birth.

As DMD progresses, a wheelchair may be needed.

Founder of District Outreach for Care and Support (DOCAS), Reverend Tongara Mapingure, said the condition is not treatable and most DMD patients die in their early 20s.

“Since the condition weakens body muscles, as the syndrome progresses it eventually affect respiratory and cardiac muscles. As such, the patient will end up having breathing problems and may need an aid of a BiPap machine to assist them,” said Rev Mapingure.

“However, it becomes difficult to assist a DMD patient when the condition affects cardiac muscles. When one reaches such a stage it means the patient’s system cannot pump blood from the heart to the rest of the body. Such a state is deadly because one can easily die from heart attack or other cardiovascular infections.

“The worst part about this rare condition is that it cannot be treated, but there are other measures that can be used to slow down the progression of DMD within a human’s body.”

He said in Zimbabwe DMD patients can resort to physiotherapy even though only a few can afford.

Rev Mapingure added: “Although physiotherapy prolongs the progression of DMD, in the Western world, there is an orphan drug which is still under trial to prolong for the same purpose.”

An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, the condition itself being referred to as an orphan disease.

DMD is caused by a damaged gene within a female chromosome. This means the female are only carriers, but not sufferers.

“When a female is carrying such a damaged chromosome, during reproduction if the baby is a male, chances of him being affected by DMD are equal,” explained Rev Mapingure.

“This is the main reason why mothers who normally give birth to babies with DMD are usually from the same family.”

Rev Mapingure said the rare condition was named after Guillaume Benjamin Amand Duchenne (1806-1875) who described and detailed the case of a boy who had this condition.

A year later, he presented photos of his patient. In 1868, he gave an account of 13 other affected children. Duchenne was the first who did a biopsy to obtain tissue from a living patient for microscopic examination.

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