Symptoms of Canavan disease - Health

<p>Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. </p>

<p>The signs of Canavan disease usually appear when the children are between 3 and 6 months of age. They include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) and often blondness, heartburn (gastrointestinal reflux) and deterioration of swallowing develop.</p>

<p>Symptoms of Canavan disease appear in early infancy and progress rapidly, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. </p>

<p>Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. The signs of Canavan disease usually appear between 3 to 6 months of age. The signs include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems.</p>

<p>Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.</p>

<p>Affected children may also have mental retardation, feeding difficulties and loss of previously acquired motor skills. Paralysis, blindness, or hearing loss may also occur. Children with CD are characteristically quiet and apathetic. As the child grows, motor skills and mental functioning deteriorate. The child eventually becomes blind, but hearing remains sharp. Affected children continue to recognize and respond to the voices of their primary caregivers. Difficulties which arise as the child grows include stiffness, weakness of the muscles, seizures, and feeding problems.</p>

<p>May include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.</p>

<p>Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including lack of head control. The child will also have poor muscle tone. Eventually, the child can develop feeding problems, seizures, and loss of vision. Although death often occurs before 18 months of age, some patients live until they are teenagers or, rarely, young adults.</p>

<p>Thalassemia - Individuals of Mediterranean, Southeast Asian and African ancestry have the greatest chance 1 in 3 and 1 in 30, respectively of being carriers for thalassemia. In general, this group of blood disorders affects a person's ability to produce hemoglobins, the protein in our blood that carries oxygen and nutrients to all parts of the body. In severe cases, children with thalassemia may not survive. Others have anemia, bone growth problems and liver and spleen involvement. Blood transfusions may be needed for treatment.
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