Canavan Disease
Overview
Canavan disease is a rare genetic disorder that affects your brain’s white matter.
The infantile type usually causes severe complications and early death. The juvenile type often involves only minor developmental delays. DNA tests can detect if a person has a genetic mutation.
Some tests can tell before birth whether your baby has Canavan disease.
Symptoms
• Infantile Canavan disease typically manifests signs between 3 to 6 months of age.
• Symptoms include abnormal muscle tone, either weak or stiff, and macrocephaly.
• Developmental delays are evident, such as the inability to achieve motor milestones.
• Eating or swallowing difficulties may occur alongside a lack of muscle control.
• Infants may appear "floppy" due to poor motor skills.
• Quiet or unresponsive behavior with little emotional expression may be observed.
Causes & Risks
• Canavan disease is hereditary, passed from parents to children.
• The disease results from a mutation in the gene responsible for producing the enzyme aspartoacylase (ASPA).
• ASPA's role is to break down the brain chemical N-acetyl-aspartate (NAA).
• Individuals with Canavan disease lack sufficient ASPA, leading to the accumulation of NAA in brain tissue.
• This buildup damages myelin, the protective substance around nerves in the brain and spine.
• Over time, the brain deteriorates into spongy tissue with fluid-filled spaces, disrupting nerve signal transmission.
Test & Diagnosis
• Diagnosis of Canavan disease involves several tests, including blood or urine tests to measure levels of NAA or ASPA, and genetic mutation tests.
• Lab tests on cultured fibroblasts from skin cells can also detect a lack of ASPA, aiding in diagnosis.
• Canavan disease can sometimes be diagnosed before birth through tests like amniocentesis, which measures NAA levels in the fluid around the fetus.
• Amniocentesis is typically done between 15 to 20 weeks of pregnancy.
• Chorionic villus sampling (CVS) is another option for high-risk parents or those with known mutations, involving genetic testing of placental tissue.
• CVS is typically performed between 10 to 12 weeks of pregnancy.
Treatment
• Although there's no cure for Canavan disease, symptom management can improve comfort for affected individuals.
• Treatment options include feeding tubes for nutrition, seizure-controlling medications, and physical therapy for communication and posture.
• Genetic testing and counseling offer insights into the risk of the disease for future generations.
• While the diagnosis is challenging, proper support and care can enhance the quality of life for those with Canavan disease.
• Despite the tough prognosis, proactive management can help individuals live as comfortably as possible.
• With comprehensive care and support, affected individuals can navigate the challenges of Canavan disease more effectively.
Living With
The outlook for people with Canavan disease depends on the type of disease: infantile or juvenile. Children with infantile Canavan disease usually survive until about 10 years old.
Some may survive into their teens or 20s. But in mild juvenile Canavan disease, life expectancy is usually normal. Scientists have identified the gene that causes Canavan disease and are testing possible treatments.
Strategies include: Gene therapy, Man-made ASPA that can be injected into the bloodstream, Stem cell therapy.
Complications
• Canavan disease, a genetic disorder affecting the nervous system, manifests in developmental delays such as sitting, crawling, and walking delays in infants.
• Intellectual disability often becomes apparent as affected individuals age, accompanied by progressive motor skill deterioration.
• Symptoms include muscle stiffness, paralysis, and loss of head control, alongside vision and hearing issues and swallowing difficulties.
• Epileptic seizures may occur, leading to additional neurological complications.
• In severe cases, life-threatening complications can arise due to progressive nervous system degeneration.
• While there's no cure, symptom management and treatment can enhance quality of life for those with Canavan disease.
The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
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