SEPTEMBER is Muscular Dystrophy month and on Wednesday, 7 September is the global campaign, Duchenne Awareness Day.
Muscular dystrophy is the name given to a group of more than 70 different neuromuscular disorders causing progressive wasting and weakness of the muscles. Each type presents differently and with its own levels of complexity. They are characterised primarily by progressive muscle weakness, leading to secondary effects such as fatigue, increasingly limited physical activity, impaired balance and often collapsing.
“The prognosis varies according to the type of MD and the speed of progression. Some types are mild and progress very slowly, allowing normal life expectancy, while others are more severe and result in functional disability and loss of the ability to walk,” said Heather Ainsworth, the administrator and fundrasier for the KZN branch of the Muscular Dystrophy Foundation of South Africa. “The disorders are usually inherited, with the defective gene being passed on from one generation to the next. However, MD can also occur in families where there is no prior history of the condition.”
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood and affects approximately 1 in every 3 500 live male births and there are about 20 000 new cases each year, worldwide. “Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. However, it occurs across all races and cultures,” said Heather.
Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. As dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically only live into their late twenties.
For more information or to make a donation to the The Muscular Dystrophy Foundation KZN Branch, contact Heather Ainsworth on 031 332 0211.
