Symptoms of Canavan Disease

Symptoms of Canavan disease, which appear incontrol, and megalocephaly (abnormally enlarged
early infancy and progress rapidly, may includehead). Paralysis, blindness, or seizures may also
mental retardation, loss of previously acquiredoccur.
motor skills, feeding difficulties, abnormal muscleAffected children may also have mental
tone (floppiness or stiffness), and an abnormallyretardation, feeding difficulties and loss of
large, poorly controlled head. Paralysis, blindness, orpreviously acquired motor skills. Paralysis, blindness,
hearing loss may also occur.or hearing loss may also occur. Children with CD
Children are characteristically quiet and apathetic.are characteristically quiet and apathetic.
Although Canavan disease may occur in anyAs the child grows, motor skills and mental
ethnic group, it is more frequent amongfunctioning deteriorate. The child eventually
Ashkenazi Jews from eastern Poland, Lithuania,becomes blind, but hearing remains sharp.
and western Russia, and among Saudi Arabians.Affected children continue to recognize and
The signs of Canavan disease usually appearrespond to the voices of their primary caregivers.
when the children are between 3 and 6 monthsDifficulties which arise as the child grows include
of age. They include developmental delaystiffness, weakness of the muscles, seizures, and
(significant motor slowness), enlargement of thefeeding problems.
head (macrocephaly), loss of muscle toneMay include mental retardation, loss of previously
(hypotonia), poor head control, and severe feedingacquired motor skills, feeding difficulties, abnormal
problems.muscle tone (i.e., floppiness or stiffness), poor
As the disease progresses, convulsions (seizures),head control, and megalocephaly (abnormally
shrinkage of the nerve to the eye (optic atrophy)enlarged head). Paralysis, blindness, or seizures
and often blondness, heartburn (gastrointestinalmay also occur.
reflux) and deterioration of swallowing develop.Typically, symptoms begin in the first year of life.
Symptoms of Canavan disease appear in earlyParents tend to notice when a child is not reaching
infancy and progress rapidly, but generally includeparticular developmental milestones, including lack
rapidly increasing head circumference, lack of headof head control. The child will also have poor
control, reduced visual responsiveness andmuscle tone. Eventually, the child can develop
abnormal muscle tone such as stiffness orfeeding problems, seizures, and loss of vision.
floppiness.Although death often occurs before 18 months of
Canavan disease can be identified by a simpleage, some patients live until they are teenagers
prenatal blood test that screens for the missingor, rarely, young adults.
enzyme or for mutations in the gene thatThalassemia - Individuals of Mediterranean,
controls aspartoacylase. The signs of CanavanSoutheast Asian and African ancestry have the
disease usually appear between 3 to 6 months ofgreatest chance 1 in 3 and 1 in 30, respectively of
age. The signs include developmental delaybeing carriers for thalassemia. In general, this
(significant motor slowness), enlargement of thegroup of blood disorders affects a person's ability
head (macrocephaly), loss of muscle toneto produce hemoglobins, the protein in our blood
(hypotonia), poor head control, and severe feedingthat carries oxygen and nutrients to all parts of
problems.the body. In severe cases, children with
Symptoms of Canavan disease, which appear inthalassemia may not survive. Others have
early infancy and progress rapidly, may includeanemia, bone growth problems and liver and
mental retardation, loss of previously acquiredspleen involvement. Blood transfusions may be
motor skills, feeding difficulties, abnormal muscleneeded for treatment.
tone (i.e., floppiness or stiffness), poor head