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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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• Definition
• Canavan Disease Overview, Causes, & Risk Factors
• Canavan Disease Symptoms & Signs
• Canavan Disease Prevention
• Canavan Disease Diagnosis & Tests
• Canavan Disease Treatment
• Canavan Disease Prognosis
• Canavan Disease Complications
• Canavan Disease Support Groups
• Calling Your Health Care Provider
Topics that might be of interest to you Diseases & Conditions
• Gastroesophageal Reflux in Infants
Tests & Exams
• Cranial CT Scan
• CSF Chemistry
• MRI of the Head
• Urine Chemistry
Other Topics
• Aspartic Acid
• Autosomal Recessive
• Central Nervous System
• Enzyme
• Genetic Counseling and Prenatal Diagnosis
• Hypotonia
• Increased Head Circumference
• Joint Pain
• Seizures
• Swallowing Difficulty
• White Matter of the Brain
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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