I have long held the belief that there is no “silver bullet” solution when it comes to the prevention of pressure sores. I am really lightweight and skinny, which at […]
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WINTER IS COMING ….
Cold weather is a challenge for many of us, but for people with muscular dystrophy who are permanently confined to a wheelchair, it can be a real struggle. We face […]
Read More Digital days
We all hope to leave behind some sort of legacy, be it something we have created, or information we have gathered, or knowledge which we might have developed. My wife […]
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First certified care centre for muscular dystrophy at Red Cross Hospital
Cape Town – The Red Cross War Memorial Children’s Hospital has opened the first certified Duchenne Care Centre outside the US to tackle muscular dystrophy (MD), a fatal muscle disease […]
Read MoreI have been diagnosed with muscular dystrophy and my husband and I want to start a family. How can I prevent my child from inheriting it, and are there any newborn screening tests available in South Africa?
Your question is an important one. In order to answer it accurately, there are a number of important considerations. The answer may be different for each couple and would depend […]
Read MoreRoche has registered the drug, Evrysdi, in South Africa for treatment of spinal muscular atrophy. How does Evrysdi work and what is the benefits?
Evrysdi (Risdiplam) is the first oral gene therapy medication approved to treat SMA. In order to understand the treatment, it is necessary to know something about SMA. SMA is a […]
Read MoreWhat makes SMA genetics unique?
Spinal muscular atrophy(SMA) is one of many diseases that causes muscle weakness, typically in early childhood. It is one of the most common genetic (inherited) neuromuscular diseases affecting 1/8000 to […]
Read MoreI was clinically diagnosed with muscular dystrophy. Is it necessary to do further tests and get a proper genetic diagnosis?
As mentioned above, muscular dystrophy is not a single condition. It is a group of genetic diseases characterised by progressive weakness and degeneration of the skeletal muscles. Faults in a […]
Read MoreMany research projects worldwide are working on gene therapy as a treatment option for muscular dystrophy. What is your opinion about it?
In answering this question, it is important to consider a number of important points. Firstly, muscular dystrophy is not a single disease but rather a group of conditions caused by […]
Read MoreAs an affected adult, are there ways to have children who are not affected?
Yes, there are many options. It would be important for an affected adult to consult with a medical geneticist or genetic counsellor to facilitate the most appropriate decision for a […]
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