How Do You Spell CANAVAN?
Pronunciation: [kˈanɐvˌan] (IPA) 
Pronunciation: [kˈanɐvˌan] (IPA)
Canavan is a rare genetic disorder that is characterized by a deficiency in a specific enzyme called aspartoacylase. This enzyme plays a vital role in the breakdown and recycling of a compound called N-acetylaspartic acid (NAA) in the brain. The condition is named after the physician who first described it, Myrtelle Canavan.
Individuals affected by Canavan generally display symptoms within the first few months of life. These signs may include developmental delays such as a lack of motor control, an inability to sit independently, and delayed growth. Seizures, muscle stiffness, and feeding difficulties may also be evident. Over time, worsening neurological symptoms can further impair cognitive and motor functions.
The genetic cause of Canavan is an inherited mutation in the ASPA gene, which is responsible for producing aspartoacylase. This mutation results in reduced or absent enzyme activity, leading to an accumulation of NAA in the brain. The excess NAA disrupts the normal functioning of brain cells, particularly the myelin sheath, which is crucial for the transmission of messages between nerve cells.
Unfortunately, there is currently no cure for Canavan. Treatment options primarily focus on managing symptoms and supporting affected individuals and their families. This may include physical therapy to improve muscle function, medications to control seizures, and assistive devices to aid with mobility.
Due to its autosomal recessive inheritance pattern, Canavan typically occurs when both parents carry a single mutated ASPA gene. Genetic counseling is recommended for parents with a family history of Canavan or those concerned about their risk of passing on the condition.
