What are the symptoms of Canavan disease?
The syndromes of this disorder start showing during early infancy and keep growing rapidly after that. The symptoms include flexion of arms and hyperextension of legs, atonia of neck muscles (abnormal development of muscles leading to floppiness or stiffness in muscles), hypotonia, eyesight related problems that sometimes lead to complete blindness, mental health related problems such as mental retardation, difficulty involved with the motor movements and feeding, hearing loss, problem in balancing the head due to an abnormally big head (known as megalocephaly) and in some cases paralysis. What causes Canavan disease? As mentioned earlier, this disease is a genetically inherited disorder mainly caused due to autosomal recession and defect/mutation in the aspartoacylase enzyme producing gene ASPA located on chromosome 17 in humans. The enzyme plays an important role of breaking down N-acetyl aspartate (a brain molecule), which when decreased can lead to a condition where excess of N-ace
