I 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... Read more.
Roche 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... Read more.
What 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)... Read more.
I 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... Read more.
Many 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... Read more.
As 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... Read more.
What is the difference between hereditary and sporadic inclusion body myositis?
Inclusion body myositis refers to a group of conditions which share some clinical features of progressive muscle weakness and wasting and also have similar features... Read more.
Is newborn screening available for muscular dystrophy?
Newborn screening aims to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms... Read more.
Two of my baby brothers have Duchenne muscular dystrophy. My mother is a carrier. What are the chances of me being a carrier?
Duchenne muscular dystrophy is a different inherited degenerative muscle disease. It predominantly affects males, as the gene involved is located on the X chromosome.... Read more.
What is LMNA-related congenital muscular dystrophy?
This term refers to a particular rare type of genetic muscle disease that presents with muscle weakness which typically becomes apparent in infancy or early childhood... Read more.