Facts About Canavan Disease

Canavan disease is a rare genetic neurological illness characterized by spongy degeneration of the white matter of the brain. It affects around one in every 100,000 people. Infants with the condition may appear normal at birth, but they typically develop symptoms between the ages of three and six months. Macrocephaly is characterized by an excessively large head (macrocephaly), a lack of head control, drastically decreased muscular tone resulting in “floppiness,” and developmental milestones such as independent sitting and walking are delayed. The majority of affected children suffer life-threatening complications by the time they reach the age of ten. Canavan disease is compelled by mutations in the aspartoacylase (ASPA) gene, which affects the breakdown (metabolism) of the amino acid N-acetylaspartic acid (NAA) (NNA). It is passed down via families as an autosomal recessive disorder.

A category of illnesses known as leukodystrophies includes Canavan disease, which is a type of leukodystrophy. In medicine, leukodystrophies refer to a collection of rare genetic illnesses that progress over time and are characterized by metabolic abnormalities in the brain and spinal cord, as well as nerves outside of the central nervous system (peripheral nerves). Approximately ten different chemicals that make up the white matter of the brain are affected by each kind of leukodystrophy, and each type is caused by an anomaly affecting a single gene that leads to the abnormal development of one of those chemicals.

The white matter is made up of nerve fibers and is a type of tissue. Known as myelin, this collection of fats (lipids) and proteins protects many of the nerve fibers in the body’s nervous system. Myelin, which is collectively referred to as the myelin sheath, is a protective covering that surrounds nerve fibers and acts as an insulator, as well as a speed enhancer for the transmission of nerve signals. A leukodystrophy is a group of diseases that each affect a distinct region of the myelin sheath, resulting in a variety of neurological disorders.

Is This a Common Occurrence?

Canavan disease is a hereditary illness that affects the function of the brain‘s nerve cells (neurons), preventing them from correctly transmitting and receiving data.

Despite the fact that this fatal neurological illness can affect children of any ethnic origin, it is more prevalent among the Ashkenazi Jewish community. One in every 6,400 to 13,500 persons born of Ashkenazi origin is affected, which is approximately one in every 6,400 to 13,500 people. Ashkenazi Jews have their origins in eastern Poland, Lithuania, and western Russia, and they are the largest group in the world.

Even though it is not understood for certain, the prevalence of Canavan illness in the general population is most likely substantially lower.

Children born with Canavan illness may not show any signs or symptoms when they are firstborn. Signs of the condition usually show within a few months following the onset of the condition.

What are the Signs and Symptoms?

The symptoms and signs of the condition might be extremely variable. It is possible that not all children affected by the illness may exhibit the same symptoms.

These are some of the most expected signs and symptoms:

• a larger-than-normal circumference of the head
• inability to maintain control of the head and neck
• Stiffness or floppiness as a result of diminished visual response and tracking atypical muscle tone
• odd posture, with the legs frequently kept straight, and the arms flexed problem swallowing, with food occasionally streaming up into the nostrils difficulty communicating sleeping
• seizures

The development of an increase in head circumference is often sudden. Other symptoms manifest much more slowly. For example, as a baby’s development slows down, visual impairments may become more noticeable to the parent.

Cavan disease is a progressive disorder, meaning that its symptoms might deteriorate over time as the disease progresses.

Is it Possible for Complications to Arise?

Children with Canavan disease are typically unable to sit up, crawl, or walk, depending on the severity of their condition. Occasionally, they may be able to walk. They may also experience difficulty swallowing.

Delays in development are also experienced by children with Canavan illness. Language and other skills are often learned later in life, if at all. Canavan illness may or may not have an effect on one’s ability to hear.

These issues can have a significant influence on the overall well-being of a child.

What is the Underlying Cause of this Ailment, and Who is at Risk?

Canavan disease is one of the numerous hereditary illnesses known as leukodystrophies, which are characterized by a lack of white blood cells. These disorders have an impact on the myelin sheath, which is a thin coating that surrounds nerves. In addition, myelin aids in the transmission of impulses from one nerve to another.

Children who suffer from this illness are deficient in an important enzyme known as aspartoacylase (ASPA). This naturally occurring molecule aids in the breakdown of N-acetylaspartic acid into the building components that make up myelin. The absence of ASPA causes the myelin to fail to develop properly, resulting in decreased neuronal activity in the brain and the rest of the central nervous system.

In order for their child to acquire Canavan disease, both parents must have the faulty gene that results in the absence of ASPA. When both parents carry the gene, each child has a 25 percent chance of having this genetic ailment if both parents carry the gene.

Canavan illness is a genetic abnormality that affects around one in every 55 Ashkenazi Jews.

What is the Procedure for Diagnosing this Condition?

Whether or not a fetus has Canavan illness can be determined by doing a prenatal blood test.

If you have the Canavan gene mutation, you may want to talk to your doctor about having genetic testing done before getting pregnant.

While already pregnant, it is recommended that you take a blood test to determine whether or not your baby has been impacted.

What Types of Therapy Choices are Accessible to You?

There is presently no remedy or treatment for Canavan’s illness. Ultimately, the goal of treatment is to alleviate your child’s symptoms while also improving their overall quality of life.

The treatment regimen for your child will differ depending on the symptoms that they are experiencing. It is the pediatrician’s responsibility to collaborate with you and your kid to decide the best way to satisfy their requirements.

For example, feeding tubes can be extremely beneficial for children who have severe swallowing difficulties. These tubes can help to ensure that your child receives all of the nutrients that they require as well as enough fluids to keep them hydrated.

Physical therapy and adaptive equipment may be beneficial in the promotion of better posture and posture correction. Epilepsy control may be improved with the use of lithium and other drugs.

Is it Possible that this Condition will Shorten Your Life Expectancy?

In order to find out more about your child’s condition, the best source of information is your child’s pediatrician. Individual outcomes can vary based on the severity of the illness, the symptoms experienced, and any complications that arise as a result.

When a child is impacted with Canavan disease, he or she is more likely to acquire complications as a result of problems with their central nervous system.

These issues have the potential to shorten a person’s life expectancy. Many children who are affected by Canavan illness do not survive to adulthood.

In children, a minor form of Canavan illness can occur, resulting in developmental delays as well as other symptoms. Children with this mild form of Canavan disease, which is less prevalent than other types of the condition, can often live well into adulthood despite the fact that it is less common.

What Resources are Available for Assistance?

You and your kid can benefit from joining a regional or online support group to assist you in managing Canavan disease. The Canavan Disease Patient Insight Network is an online resource designed to assist families in learning about research and promising treatments for Canavan disease and related disorders. The club also provides a means of connecting with a larger community of families who are going through the same thing.

There is some reassuring research being executed in the treatment of Canavan illness, although the studies are still in the early phases. The study of stem cells and gene therapy are among the topics covered in the research. A few international Canavan illness registries are being established in order to better understand the disease’s causes, as well as potential cures and treatments.

If you’re interested in learning more, you can contact the Canavan Disease Patient Insight Network or the Canavan Foundation for additional information. In addition, you should speak with your child’s pediatrician about your options and what to expect in the months and years ahead of time.