Have you heard about Canavan disease? Do you know what the symptoms, causes, and treatment options are available for this disease? If not, this health guide is worth reading. In this article, we will cover all the important information you need to know about Canavan disease and discuss its associated risk factors. So, without any further delay, let’s get started.
What is Canavan Disease?
Canavan disease is a genetic/neurological disorder in which the brain degenerates into spongy tissue comprising small fluid-filled spaces. It refers to a condition that affects how the body breaks down and uses aspartic acid. This disease is part of a group of diseases called leukodystrophies. These rare genetic disorders affect your brain, nerves, and spinal cord, and the symptoms worsen over time.
Canavan is a hereditary condition that does not allow the brain’s nerve cells to properly send and receive information. This fatal disease can affect children of any ethnic background. Usually, the sufferer’s death occurs before age 10; however, some children may survive in their teens and twenties.
Common Types of Canavan Disease
There are two main types of Canavan disease which are:
· Infantile Canavan Disease
This is the most common and severe type of Canavan disease. Infants with this type of Canavan disease experience developmental problems and usually die in childhood or adolescence.
· Juvenile Canavan Disease
This type of Canavan disease is less-common and milder and does not necessarily shorten the life span of the sufferer.
What are the Causes of Canavan Disease?
Canavan disease is inherited, which means that it is passed down from parents to kids. The disease is caused by a mutation in an enzyme called aspartoacylase (ASPA). The role of ASPA is to break down the brain chemical called N-acetyl-aspartate (NAA).
Children suffering from Canavan disease do not have sufficient ASPA. Resultantly NAA builds up in their brain tissue and damages their myelin, a fatty substance responsible for protecting and nourishing the brain and spine. With time, it causes the brain to deteriorate into spongy tissue and prevents it from properly sending or receiving brain signals.
Symptoms of Canavan Disease
Infants born with Canavan disease may not experience noticeable symptoms at birth; however, symptoms appear within a few months. The following are some of the commonly experienced symptoms of Canavan disease.
- Abnormal muscle tone, i.e., stiff or weak muscles
- Abnormally large head
- Difficulty eating or swallowing
- Developmental delays, such as; the unable to sit, roll, crawl, or walk
- Floppiness, i.e., lack of floppiness
- Unresponsive behavior
Kids with juvenile Canavan disease may experience only mild developmental delays, and the symptoms aren’t as severe.
Diagnosing Canavan Disease
A parental blood test reveals whether the fetus has Canavan disease or not. If the parents carry the Canavan gene mutation, you must consider genetic testing before becoming pregnant. However, if you are already pregnant, you should have a blood test done to see if your baby is affected.
If your healthcare provider suspects Canavan disease, you might have to undergo several tests to diagnose it.
- Blood or urine tests to check levels of NAA or ASPA or other tests that look for genetic mutation
- Lab tests to check specific skin cells to check for lack of ASPA
Treatment for Canavan Disease
There is no cure or treatment available for Canavan disease. However, the most promising potential lies in the development of Myrtelle’s rAAV-Olig001-ASPA gene therapy. This gene therapy is given a one-time administration into fluid-filled cavities of the brain. This process allows the rAAV-Olig001-ASPA gene therapy to directly target the oligodendrocytes of the brain.
General treatments aim to manage the symptoms and keep the person comfortable for as long as possible. Some of the options include:
- Using Feeding tubes to deliver fluids to the sufferer
- Taking medications to control seizures
- Physical therapy to improve floppiness, posture, and communication
Apart from that, genetic testing and counseling can also be considered to minimize the risk associated with the disease.
