canavan disease…

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spongy degeneration, the brain, aspartoacylase deficiency, canavan disease, inherited disorder of aspartic acid metabolism, characterized by degeneration, the white matter, the brain, canavan disease is inherited, an autosomal recessive trait, more common among ashkenazi jews than, in the general population, a deficient enzyme, aspartoacylase, in the accumulation of n-acetylaspartic acid, in the brain, a degeneration, the white matter, symptoms begin, in the first year of life, parents tend to notice, a child is not reaching particular developmental milestones, poor muscle tone, lack of head control, eventually, child, develop feeding problems, seizures, loss of vision, death often occurs, 18 months of age, live, teenagers, young adults, a family history of canavan disease, decreased muscle tone, hypotonia, the neck muscles, abnormal posture, flexed arms, straight legs, feeding difficulties, nasal regurgitation, swallowing difficulties, reflux, vomiting, increasing head size, macrocephaly, head lag, failure to meet milestones, seizures, severe mental retardation, blindness, hyperreflexive, joint stiffness, optic atrophy, tests, head ct showing degeneration of white matter, leukodystrophy, head mri scan showing degeneration of white matter, leukodystrophy, urine chemistry, increased n-acetylaspartic acid, increased secretion, csf chemistry, increased n-acetylaspartic acid, increased levels, blood chemistry, increased n-acetylaspartic acid, increased levels, genetic testing, aspartoacylase gene mutations, treatment aims to ease the symptoms, no specific treatment, additional information, canavan foundation, canavanfoundation, 877-4-canavan, canavan disease, central nervous system degenerates, progressive disability is likely, death, occurs, in the first 1 to 2 decades of life, a fatal disorder, includes severe disabilities mental retardation, blindness, inability to walk, child has any symptoms of canavan disease, genetic counseling, prospective parents, a family history of canavan disease, parents, ashkenazi jewish descent, latter group, dna testing, always tell, parents, carrier.