Canavan Disease and Receiving Social Security Disability
Canavan disease is a rare genetic (inherited) neurological disorder that is marked by the degeneration of the white matter of the brain into spongy tissue that is riddled with microscopic fluid-filled spaces. Canavan disease affects the breakdown and metabolism (use) of aspartic acid. Canavan disease is one of a group of genetic neurological disorders that are referred to as the leukodystrophies. These diseases cause imperfect development or growth of the myelin sheath, which is the fatty covering that functions as an insulator around nerve fibers in the brain. Myelin lends its color to the white matter of the brain. It is a complex substance that is composed of at least 10 chemicals. Each one of the leukodystrophies affects one (and only one) of these chemicals. Canavan disease prevents the making of an enzyme that is known as aspartoacylase. Canavan disease is known by other names. It is also referred to as aspartoacylase deficiency, spongy degeneration of the brain, canavans leukodystrophy and ASPA deficiency. Canavan disease is caused by a faulty (defective) gene that causes the absence of enzyme aspartoacylase. This enzyme is responsible for breaking down a material known as N-acetylaspartic acid in the brain. Without it being there, N-acetylaspartic acid builds up in the brain. This, in turn, causes the deterioration (break down) of the white matter of the brain. As mentioned earlier, canavan disease is a genetic (inherited) disease. This means that it is passed down from parent to child. It is inherited in what is known as an autosomal recessive pattern. This means that each parent has to have the defective gene in order for a child to have the possibility of getting this disease. There are several different signs and symptoms that your loved one may have with canavan disease. Some of these are:- Poor muscle tone, especially of the neck muscles
- Swallowing problems
- Irritability
- Severe mental retardation
- Nasal regurgitation (backflow of food material into the nose)
- Reflux with vomiting
- Abnormal posture with straight legs and flexed arms
- Seizures
- Difficulty with eating
- Blindness or poor visual tracking
- Macrocephaly (increased head size).
