Canavan Disease
Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain
Canavan Disease Symptoms & Signs
- A family history of Canavan disease
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Decreased muscle tone (hypotonia), especially of the neck muscles
- Abnormal posture with flexed arms and straight legs
- Feeding difficulties
- Nasal regurgitation
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Swallowing difficulties
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Reflux with vomiting
- Increasing head size (macrocephaly)
- Head lag
- Failure to meet milestones
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Seizures
- Severe mental retardation
- Blindness
- Death often by 18 months
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