How Do You Spell INFANTILE CANAVAN DISEASE?
Pronunciation: [ˈɪnfəntˌa͡ɪl kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [ˈɪnfəntˌa͡ɪl kˈanɐvˌan dɪzˈiːz] (IPA)
Infantile Canavan Disease, also known as Canavan-Van Bogaert-Bertrand Disease, is a rare genetic neurological disorder characterized by the degeneration of nerve cells in the brain. It falls under the category of leukodystrophies, a group of disorders affecting the growth and development of the white matter in the brain.
Infantile Canavan Disease is typically diagnosed in early infancy, usually within the first six months of life. It is caused by a mutation in the ASPA gene, which leads to a deficiency in the production of the enzyme aspartoacylase. Aspartoacylase plays a vital role in the breakdown and recycling of a substance called N-acetylaspartic acid (NAA) in the brain. The lack of this enzyme results in the accumulation of NAA, causing toxic levels that damage the white matter in the brain.
Symptoms of the disease may include delayed development, poor muscle tone (hypotonia), inability to sit, stand, or walk, swallowing difficulties, intellectual disability, and seizures. As the condition progresses, affected individuals may experience a loss of vision and hearing, an increase in muscle stiffness (spasticity), and worsening of cognitive and motor functions.
Currently, there is no known cure for Infantile Canavan Disease. Treatment is supportive and aimed at managing the symptoms, which may include physical therapy, occupational therapy, and medications to control seizures or alleviate muscle stiffness. Prognosis for individuals with this disease is generally poor, with most affected children not surviving beyond their teenage years.
Genetic counseling and prenatal testing are recommended for families with a history of Canavan Disease to assess the risk of passing on the condition. Research efforts are underway to explore potential future therapeutic options and genetic interventions to prevent or treat
