Signs and symptoms appear in children between 3-6 months of age. These can include
- developmental delay,
- significant motor slowness,
- feeding difficulties,
- enlargement of the head (macrocephaly),
- loss of muscle tone (hypotonia), and
- poor head control.
Cause of Canavan disease
A deficiency of the enzyme aspartoacylase causes Canavan disease. People inherit the disease as an autosomal recessive condition, with both parents silently carrying a single Canavan gene and an affected person receiving a defective gene copy from each parent.
Other canavan disease symptoms and signs
- Developmental Delay
- Enlargement of the Head (Macrocephaly)
- Feeding Difficulties
- Inability to Swallow
- Loss of Muscle Tone (Hypotonia)
- Poor Head Control
- Shrinkage of the Nerve to the Eye (Optic Atrophy)
- Significant Motor Slowness
Main Article on Canavan Disease Symptoms and Signs
Pictures, Images, Illustrations & Quizzes
Family Health History: Genetics, DNA Testing and Your Health
WebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
Genetics: 11 Surprising Things Your Genes Say About You
Explore what role DNA plays in your health, love life, and more in this WebMD slideshow.