Canavan Disease Essay

388 WordsOct 9, 20112 Pages
Shannon Chuang Human Bio 100 5/2/11 Canavan Disease Max Randell is a bundle of exuberance, gaining new mastery over the world with every passing day. He was diagnosing with Canavan disease, a rare inherited disorder that destroys young brains, dragging toddlers into a near coma by age 4 and typically killing them before the age 10. Max Randell parents believe that the only hope for semblance is a childhood is to experience gene therapy developed at Jefferson medical College in Philadelphia. Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of the genetic disorder group called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers (genetic home reference, 2008) The signs and symptoms of the disease start in early infants. Infants with Canavan usually appear normal of the first 3-5 months of life, but after those few months, problems with development start to occur. This can included that delay of motor skills such as turning over, controlling head movement, and sitting without support. These infants also have weak muscles called hypotonia, large head size, abnormal posture, and intellectual disability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. (Genetic Home Reference, 2008). People inherit Canavan disease from an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one of the mutated genes, but do not show the symptoms. Basically one of the parents is a carrier or Heterozygous for this mutation. The prognosis for Canavan disease is poor. Usually the death occurs before the age 4 and some survive in their late teens and early

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