There are different kinds of genetic disorders. Canavan is also a kind of genetic disorder. It is linked to the leukodystrophies group of inherited disorders. The sheath that covers the nerve cells of the brain is named as myelin sheath. This disease causes defects in this sheath. Due to this disease, an inherited mutation of chromosome 17 occurs. Due to this mutation, there occurs a deficiency of the enzyme aspartoacylase.
This deficiency of this enzyme leads to the chemical imbalance. The chemical imbalance causes myelin destruction. Due to myelin destruction, healthy tissues of the brain are degenerated into spongy tissues. This disease is automatically transferred from parents to their child if one copy of mutated gene is inherited from each parent. This disease is common in the people belonging to any ethnic group. But the disease is more common in Saudi Arabia, Poland, and Russia.
Causes of Canavan Disease :
This disease belongs to a group of genetic disorders. It has been reported that the cells present in the brain are the main cause of this disease. Myelin sheaths are the fatty sheaths. These do not only act as an insulator, but also provide nutrients to the nerve fibers in the brain. Mutation in the gene on chromosome 17 leads to the deficiency of the enzyme aspartoacylase. Deficiency of this enzyme is the cause of this disease.
There are different symptoms of this disease that develop in early childhood. With time, these symptoms get worse. These symptoms include:
- Unnatural muscle tone
- Weakness in the muscles of neck
- Poor control over head
- Large sized head
- Abnormally straight legs
- Contraction in arm muscles
- Lack of motor skills
- Mental illness
- Loss of vision
- Difficulty in feeding
Signs of Canavan :
- Weakness in muscles
- Stiffed muscles
- Mental retardation
- Difficulty in controlling head
The disease can be recognized easily by various symptoms that have been mentioned above. This disease is mostly found in the people of Ashkenazi Jewish ancestry. In addition to physical examination, some tests are also performed for diagnosing this disease. A patient should take immediate action after the disease has been diagnosed.
- Computed Tomography – With CT scan it becomes easy to observe the degeneration of the tissues of the brain.
- Blood Test – Blood tests show the deficiency of the enzyme aspartoacylase. Thus, the disease is confirmed.
- Head CT Scan – This is another test performed to see the strength of muscles of the neck and head control.
- Genetic Testing – Genetic testing is also performed for the confirmation of the presence of the disease causing mutated gene.
- Urine Chemistry Test – This is another test that is performed to check the chemistry of urine. In this way, deficiency of the enzyme is checked.
The disease is a great danger to life. Prognosis of this disease is also difficult. Most of the children suffering from the disease die in early childhood. That is why a good prognosis of the disease is not possible.
There are not any particular preventive measures of the disease. To keep children safe from the disease, make sure that your children eats solid and healthy diet. It is also necessary to fulfill the nutrients and vitamins need of the body. Avoid unhealthy eating and poor lifestyle. The only thing that can prevent this disease is the use of proper diet.
1.Adrenoleukodystrophy (ALD) – This is most common type of Canavan disease. This type is commonly found in the boys. The cause of this disease is X-linked gene on the chromosome. The symptoms of this disease appear in the children at the age of 10. With the time, the disease progresses rapidly. This disease also has some side effects on the adrenal glands of the patients. This effect on adrenal glands leads to the insufficient production of cortisone. This kind of inherited change also leads to the adrenomyeloneuropathy in elder people which has diverse effects on spinal cord. Same symptoms can also appear in the women.
2.Metachromatic Leukodystrophy (MLD) – This is another type of disease Canavan. There are a number of sub types of this disease. Related to the age, symptoms of different sub types appear. Some of the common sub types include
- Late infantile
- Juvenile MLD
- Adult MLD
The subtype late infantile affect the verbal skills and movement of the sufferer. With the time, these symptoms also get worse.
3.Spongy Degeneration – Unnatural growth of myelin occurs in this sub type. This type leads to the poor control of the head. It also causes head enlargement and decrease in tone. There are limited chances of survival.
4.Globoid Leukodystrophy – This type of the disease has an adverse effect on the nervous system. It mostly affects children. This is rarely found in elder people.
- Loss of vision may occur
- Difficulty in walking
- Mental retardation
- Learning difficulties
- Short Stature
- Leucody Strophy
- Spastic Ataxia
Home Remedies :
There is not any particular home remedy for getting rid of this disease. The only home remedy is to take balanced diet. Also take exercise regularly for muscles build up.
No treatment for this disease has been found yet. Different treatments are recommended by the specialists for managing the symptoms resulted. The disease is a life threatening disease. With time, it gets worse. Most of the children die at the age of 4 or even before. For the development of child potential, following treatments are used.
- Physical Therapy
- Speech Therapy
- Occupational Therapy
- Gene Therapy
- Enzyme Therapy
- Metabolic therapy
When to Seek Medical Care?
Some types of this disease are really life threatening. Symptoms of the disease have been discussed above. If you notice any of these signs and symptoms, you need to take an immediate action.