How can canavan disease be prevented

If you carry the Canavan gene mutation, you may want to discuss genetic testing prior to becoming pregnant. For example, feeding tubes can also be helpful for children who have serious swallowing problems.

These tubes can ensure that your child is getting all of the nutrients they need and enough fluids to stay hydrated. Physical therapy and adaptive equipment may be helpful in promoting better posture. Lithium or other medications may be helpful in controlling seizures. Many children affected by Canavan disease develop disabilities resulting from issues with their central nervous system.

These complications can have an impact on life expectancy. There is a mild form of Canavan disease that leads to developmental delays and some other symptoms. Though less common than other forms of the disease, children with this mild type of Canavan disease can often live well into adulthood. To help you and child cope with Canavan disease, find a regional or online support group.

The Canavan Disease Patient Insight Network is an online resource to help families learn about research and promising treatments. The group also serves as a way to connect with a community of families dealing with the same struggle. There is some encouraging research in treating Canavan disease, but the studies are in their early stages. Research includes the study of stem cells and gene therapy.

A few international registries of Canavan disease are forming to better study causes and possible cures and treatments. In a new study, computer modeling found that rapidly identifying asymptomatic COVID cases in children could help prevent outbreaks as effectively…. Almost one-third of children with Zika had developmental delays and other problems, a new study finds.

Hypotonia, or poor muscle tone, is usually detected at birth or during infancy. Learn more about signs, causes, and treatments. Learn more. The vagus nerve is the longest of the 12 cranial nerves. Here, learn about its anatomy, functions, and the kinds of health problems that can occur. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Canavan disease. From Genetics Home Reference. Description Canavan disease is a rare inherited disorder that damages the ability of nerve cells neurons in the brain to send and receive messages.

Frequency While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi eastern and central European Jewish heritage. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.

Epub Nov Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Am J Med Genet A. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. Ann Neurol. Epub Mar Other Names:. Congenital and Genetic Diseases. This disease is grouped under:.

Summary Summary. Symptoms Symptoms. The following list includes the most common signs and symptoms in people with Canavan disease CD.

These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in Canavan disease.

These include low muscle tone, poor head control, an increased head size, and poor motor development. Later symptoms include optic nerve damage, blindness, and seizures. Over time, stiffening of arms and legs combined with low muscle tone, lead to an inability to move and swallow voluntarily.

Showing of 28 View All. Abnormality of cognition. Cognitive abnormality. Cognitive defects. Cognitive deficits. Intellectual impairment. Mental impairment. Disturbances of consciousness. Lowered consciousness. Acid reflux. Acid reflux disease. Hearing defect. Increased size of skull. Large head. Large head circumference. Low or weak muscle tone. Loss of developmental milestones.

Mental deterioration in childhood. Flexed joint that cannot be straightened. Brain degeneration. Brain wasting. Later than typical closing of soft spot of skull. Involuntary, rapid, rhythmic eye movements. Do you have more information about symptoms of this disease?

We want to hear from you. Do you have updated information on this disease? Cause Cause. Canavan disease is caused by genetic alterations in the ASPA gene.

Inheritance Inheritance. Canavan disease is inherited in an autosomal recessive pattern. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes.

Recessive means that both copies of the responsible gene must be altered to have the condition. People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms they are unaffected. Diagnosis Diagnosis. Canavan disease is diagnosed based on the symptoms, laboratory results showing elevated levels of N-acetylaspartic acid NAA in urine, and genetic testing confirming genetic changes in the ASPA gene.

The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment Treatment.