What is it?

Canavan Disease is a rare, neurological, genetic disorder of the group of leukodystrophies. Leukodystrophy is a situation that damages the myelin sheath, which is the external layer of the neuron. The myelin is critical for the neuron’s ability to send and receive nerve impulses. The neonatal Canavan disease is the most common and severe form of the condition. These infants, when turned 3-5 months, developmental problems begin such as motor delay and hypotonia, feeding and swallowing difficulties, seizures and sleep disturbances. These infants usually don’t live a long life, and survive only into childhood or adolescence. Another form of the disease in the mild or juvenile form, which is less common and mild. During childhood, these children develop speech and motor developmental delays, often mild ones. Sometimes these children will never be diagnosed with Canavan disease. The disease is caused by a mutation in the ASPA gene which plays a role in making the enzyme called aspartoacylase. This enzyme breaks a compound found in brain neurons called NAA. In this disorder, NAA builds up in the brain and results in progressive destruction of myelin and other signs and symptoms of the disease.

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Additional names

This group contains additional names:
- Leukodystrophy
- White Matter Disease

Signs & symptoms

Canavan disease symptoms vary but they may include poor head control in infants, macrocephaly, hypotonia, lethargia, irritation, dysphagia, motor developmental delay, psychomotor regression, mental retardation, seizures, sleep disorders, feeding difficulties, nasal regurgitation, gastroesophageal reflux, optic atrophy which leads to vision problems

Diagnosis

Diagnosis of Canavan disease may be suspected in infants with the mentioned symptoms. The diagnoses can be confirmed by several tests including gas chromatography-mass spectrometry that detects levels of NAA in the urine, and deficiency of the enzyme aspartoacylase can be detected in the skin. The condition can be detected today in prenatal genetic tests through amniocentesis or chorionic villus sampling earlier in pregnancy.

Treatment

There is no cure for Canavan’s disease, and the focus is on supportive treatment such as physical therapy, feeding tubes, anti- convulsant medicine for treating seizures. Investigational therapy today tries to insert a healthy ASPA gene to the infant brain so it can produce aspartoacylase.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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