Canavan disease

What is Canavan disease?

Canavan is a neurological genetic disorder. It is a cerebral degenerative disease that is very common. This disease belongs to a group of genetic disorders referred to as leukodystrophies. It is referred to by the following names:


  • ASPA deficiency
  • ACY2 deficiency
  • Aspartoacylase deficiency

Canavan can be characterized by the brain’s white matter degenerating into tissue that appears to be spongy. It is also characterized by the development of the myelin sheath, that is not normal. This is a covering around your nerve fibers that protects them. They are found in the fluid and your brain. It can occur in any ethnic group but you will see it more often among Saudi Arabians, groups in western Russia, and eastern Poland Ashkenazi Jews. In the Ashkenazi Jewish population this is where you will see more of these cases with one in six thousand four hundred to thirteen thousand five hundred people having Canavan.

Canavan disease Symptoms

The symptoms begin to show up early during infancy, usually sometime between 3 and 9 months, and continue to rapidly grow. Most parents will notice it when their child is not reaching certain milestones in their development. Some of the general symptoms are:

  • Arms flexion
  • Leg hyperextension
  • The muscles of the neck develops abnormally and leads to muscles stiffness or floppiness.
  • Hypotonia which is muscle tone that has decreased
  • Having trouble controlling their head when they are taken from a lying to a sitting position. This is called head lag
  • Problems with eyesight that can lead to being totally blind
  • Problems with mental health like mental retardation
  • Difficulty with feeding such as nasal regurgitation which is when the food material backflows into the nose
  • Reflux along with vomiting
  • Difficulties with swallowing
  • Difficulty with motor functions
  • Hearing loss
  • Irritability
  • Seizures
  • Having sleep disturbances
  • Having trouble balancing their head because their head is abnormally big which is also called megalocephaly.
  • Sometime paralysis

Many times the children that have Canavan are very apathetic and quite. These children cannot walk, sit, crawl, or talk.

Canavan disease Causes

The main cause of Canavan is heredity. It is due to a mutation of the Aspartoacylase enzyme producing gene ASPA. It can also be due to autosomal recession. This enzyme is necessary to break down the brain molecule called N-acetyl aspartate. If this enzyme decreases it can damage the myelin sheath’s growth. If the sheath is hindered the nerve impulses are affected. If both parents are carriers of this mutated gene there is a twenty-five percent chance that each time the mother gets pregnant they will have a child with this disease.

Treatment

At this time there is no cure at this time but there is symptomatic treatment that can be done to help ease the symptoms. Some of these include:

  • Gene therapy which is where they introduce artificial ASPA genes into the child’s brain to help increase the enzyme production.
  • Occupational and physical therapy like massage to help any physical conditions that this disorder causes and to help train motor movements.

Most children do not live past the age of ten.

Canavan disease Pictures

Photos, Images and Pictures collection of Canavan disease…

canavan disease

Child with Canavan disease

canavan disease pictures

canavan disease pictures 2
 

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