LAMA2-related muscular dystrophy (LAMA2-MD) affects the muscles used for movement, causing them to be weak and waste away.
LAMA2-MD is a variable condition. Babies with the more serious form of the condition are usually affected from birth and have severe muscle weakness, poor muscle tone, problems with feeding, gaining weight and growing. Unfortunately, because of the serious health problems related to this form of the condition, babies usually die within childhood or their early teenage years.
Individuals with the more mild form of LAMA2-MD will usually have a delay in movements like crawling and walking and may develop scoliosis (curving of the spine) and breathing problems. This form of the condition usually does not impact life expectancy and can be treated and managed through physical therapy and breathing support.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
LAMA2-related muscular dystrophy is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.
If both parents are carriers of LAMA2-related muscular dystrophy, there's a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes LAMA2-related muscular dystrophy, but there's a total 301 conditions that can be tested.
Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for LAMA2-related muscular dystrophy is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.
Since 90% of children that have a recessive genetic disease like LAMA2-related muscular dystrophy had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.