What does CD mean in BRITISH MEDICINE

Canavan Disease is a genetic disorder caused by a mutation in the ASPA gene which affects the myelin sheath of nerve cells. This leads to progressive damage of the central nervous system resulting in physical and mental disability.

Symptoms tend to vary from person to person but typically include developmental delays, vision problems, hearing loss, impaired movement (ataxia), lack of muscle tone (hypotonia), problems with swallowing, seizures, and learning disabilities.

The disorder affects people of all races mostly those with Ashkenazi Jewish heritage due to its high level among this population; however, it can affect anyone regardless of race or ethnicity.

Diagnosis relies on genetic testing which examines DNA for mutations in the ASPA gene. Other tests such as blood tests may be used to confirm suspected cases.

Treatment focuses on managing symptoms through physical therapy, occupational therapy, medications for seizures or spasticity if present as well as other interventions as needed based on individual presentation.