Canavan Disease

It is caused by a deficiency in the gene encoding a protein called aspartoacylase. Aspartoacylase in needed to break down N-acetyl-L-aspartate (NAA), a molecule that is thought to be involved in the removal of water from certain types of brain cells, as well as in the formation of myelin lipids

The prevalence of Canavan disease in the general population is unknown. Among people of Ashkenazi Jewish descent, the disease affects approximately 1 in 6,400 to 13,500 people, making 1 in every 40 to 58 Ashkenazi Jews a carrier.

Canavan Disease is...

HOw it travels

Canavan disease,also called Canavan-Van Bogaert-Bertrand disease, is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Canavan disease is a progressive, fatal disorder that begins in infancy; death usually occurs before age 10, although some children may survive into their teens and twenties.

Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

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Symptoms

Symptoms of Canavan disease vary, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness.Children with Canavan disease cannot crawl, walk, sit or talk. Over time they may suffer seizures, become paralyzed, developmentally delayed or blind and have trouble swallowing. Deafness may also result.Symptoms usually become apparent when the infant is three to nine months old.Mental retardation also become apparent during infancy. Most affected infants do learn to smile, laugh, raise their heads and interact socially.

SYMPTOMS CONT....

Additional symptoms that affect children with Canavan disease include seizures, sleep disorders, feeding difficulties, nasal regurgitation, backflow of acid from the stomach to the esophagus (reflux),etc.Canavan disease affects males and females in equal numbers

images of canavan disease

Canavan Disease

Prezi By : Devin boothe, Gracie ward, ericka stringfellow, ashley rooks, chloe betros

Treatments

The treatment of Canavan disease is directed toward the specific symptoms that are apparent in each individual.Supportive care may alleviate some discomfort. Physical therapy and early intervention may help to improve posture and communication skills, respectively. If swallowing difficulties occur, feeding tubes may be useful to ensure proper nutrition and hydration. Seizures may be treated with anti-seizure (anti-convulsant) medications.

Researchers are studying gene therapy for the treatment of children with Canavan disease. In gene therapy, healthy copies of the defective ASPA gene are inserted into the brains of affected children. These genes then produce the enzyme aspartoacylase required to breakdown NAA. Children treated with gene therapy have shown marked improvement of symptoms. More research is necessary to determine the long-term safety and effectiveness of gene therapy as a potential treatment for individuals with Canavan disease.

Founder

Dr. Myrtelle May Canavan had a long and distinguished career as a pathologist, neuropathologist, and curator of an anatomical museum. In addition to being one of the earliest woman pathologists and neuropathologists in the United States, she also identified the condition now known as "Canavan's disease," a progressive degenerative disorder of the central nervous system characterized by spongy changes in the brain.