How Do You Spell TYPE II CANAVAN DISEASE?
Pronunciation: [tˈa͡ɪp ɹˌə͡ʊmən tˈuː kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [tˈa͡ɪp ɹˌə͡ʊmən tˈuː kˈanɐvˌan dɪzˈiːz] (IPA)
Type II Canavan Disease is a rare and debilitating genetic disorder that affects the central nervous system. It is classified as a leukodystrophy, a group of disorders characterized by the improper development or deterioration of the myelin sheath, a protective covering that surrounds nerve fibers.
The disease is caused by a mutation in the ASPA gene, which results in a deficiency of an enzyme called aspartoacylase. This enzyme is responsible for breaking down a compound called N-acetylaspartic acid (NAA), which is found primarily in the brain. Without enough aspartoacylase, NAA builds up to toxic levels, leading to the destruction of myelin and subsequent impairment of nerve cell function.
Type II Canavan Disease typically manifests in infancy or early childhood, with symptoms including severe neurological dysfunction, delayed development, and intellectual disability. Affected individuals may experience muscle weakness and rigidity, reduced muscle tone, difficulty with coordination and movement, loss of vision and hearing, and seizures.
Unfortunately, there is currently no cure for Type II Canavan Disease. Treatment options primarily focus on managing symptoms and improving the quality of life for affected individuals. This may include physical and occupational therapy, medications to control seizures and manage symptoms, and assistive devices to aid with mobility and communication.
Due to the genetic nature of this disease, individuals with a family history of Type II Canavan Disease are at an increased risk of inheriting the condition. Genetic counseling and prenatal testing are available options for families to assess their risk and make informed decisions.
