Canavan Disease

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Canavan Disease

• Written By D. G.

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Discoveryof Canavan Disease

• Canavan Disease was discovered by Dr. Myrtelle M.
  Canavan in 1931.

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Causes of Canavan Disease

• An absence of aspartoacylase (ASPA)
• This is a problem because ASPA breaks down a
  compound called NAA. Without ASPA, NAA builds up
  in the brain and causes brain damage.

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Effects of Canavan Disease

• Mental retardation
• A large head size
• Tremors
• Inability to move muscles
• Blindness
• Feeding problems
• Poor weight gain
• Swallowing problems
• Learning difficulties begin within the first nine
  months of age

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Symptoms of Canavan Disease

• Lack of head control
• Cannot perform tasks such as rolling over or
  grasping an object.
• May be described as floppy
• Muscles eventually become stiff

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Cure for Canavan Disease

• no cure
• only treatment is supportive care
• Make the child as comfortable as possible.
• Seats with full head support, liquid diets, and
  feeding tubes.

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Diagnosis of Canavan Disease

• Doctors will look for enlarged head, floppiness,
  and an inability to hold the head up.
• An undetectable amount of ASPA will be found in
  the persons blood.
• Detectable amounts of NAA will be found in the
  urine.

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Transmission of Canavan Disease

• If two carriers for Canavan disease have a child
  together, each child has a
• 1-in-4 (25) chance of having Canavan disease,
• 2-in-4 (50) chance of being a carrier,
• 1-in-4 (25) chance of neither having Canavan
  disease nor being a carrier.
• Unaffected siblings of individuals with Canavan
  disease have a 2/3 (66) chance of being carriers.

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Occurrence Who and when

• Ashkenazi Jews
• About one out of forty Jews is a carrier
• Occurs in about one out of six-thousand
  five-hundred Jews

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Variations

• Three varieties
• Congenital, Infantile, and Juvenile
• Congenital Begins to appear in three to six
  months after birth
• Infantile Appears at about six months of age
• Juvenile Doesnt appear until at least five
  years old

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Works Cited

• Abel, Ernest L. Jewish Genetic Disorders A
  Laymans Guide. North Carolina, London
  McFarland Company, Inc, 1943, 2001.
• http//www.canavanfoundation.org/whatis.html
• Ludman, Mark D. and James Wynbrandt. The
  Encyclopedia of Genetic Disorders and Birth
  Defects. New York, Oxford Facts on File, 1991.
• http//www.ninds.nih.gov/health_and_medical/disord
  ers/canavn_doc.htm
• http//pitt.edu/edugene/Canavan.html