Canavan

Canavan disease is a rare genetic disorder that affects the central nervous system. It is one of the most common degenerative cerebral diseases of infancy. The disease is named after Myrtelle Canavan, the American neuropathologist who first described the condition in 1931.

Causes

Canavan disease is caused by mutations in the ASPA gene located on chromosome 17. This gene is responsible for producing the enzyme aspartoacylase, which is crucial for the breakdown of N-acetylaspartic acid (NAA) in the brain. The accumulation of NAA leads to the destruction of myelin, the protective covering of nerve cells.

Symptoms

Symptoms of Canavan disease typically appear in early infancy and may include:

• Hypotonia (poor muscle tone)
• Macrocephaly (abnormally large head)
• Developmental delay
• Seizures
• Feeding difficulties
• Blindness

Diagnosis

Diagnosis of Canavan disease is usually based on clinical evaluation, magnetic resonance imaging (MRI) of the brain, and genetic testing to identify mutations in the ASPA gene. Elevated levels of NAA in the urine, blood, or cerebrospinal fluid can also support the diagnosis.

Treatment

There is currently no cure for Canavan disease. Treatment is primarily supportive and may include:

• Physical therapy
• Occupational therapy
• Speech therapy
• Anticonvulsant medications for seizure control
• Nutritional support

Prognosis

The prognosis for individuals with Canavan disease is generally poor. Most affected children do not survive beyond the first decade of life. However, the severity and progression of the disease can vary.

Research

Ongoing research is focused on developing gene therapy and other potential treatments to address the underlying genetic cause of Canavan disease.

Related Pages

• Genetic disorder
• Central nervous system
• Myelin
• Aspartoacylase
• N-acetylaspartic acid
• Seizure
• Physical therapy
• Occupational therapy
• Speech therapy