Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) is a progressive condition that affects brain development and function.
The earliest symptoms include an enlarged brain (megalencephaly) with many cysts - this is often picked up at birth or within the first year of life. Over time the fatty covering (myelin) that insulates nerves in the brain and spinal cord break down. These brain abnormalities affect the use of muscles and lead to movement problems including muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). The speed of disease progression can vary, however most patients have recurrent seizures (epilepsy) and mild to moderate intellectual disability. Other symptoms can include difficulty swallowing, impaired speech, and involuntary movements.
MLC1 is a life limiting conidtion, some patients only live into their teens or 20s whereas others survive into adulthood. Early initiation of treatment and therapies is recommended to maximize outcomes.
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.
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 Megalencephalic leukoencephalopathy with subcortical cysts type 1, 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 Megalencephalic leukoencephalopathy with subcortical cysts type 1 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.